| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4053 |
Name | LTBP2 |
Synonymous | C14orf141|GLC3D|LTBP3|MSTP031;latent transforming growth factor beta binding protein 2;LTBP2;latent transforming growth factor beta binding protein 2 |
Definition | LTBP-2|latent-transforming growth factor beta-binding protein 2 |
Position | 14q24 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for LTBP2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
LTBP2_R113G; chr14; 75078311 |
SUB; MISSENSE; G; G/C; SOMATIC | HYPO; VALID; EXOME |
LTBP2_R113G; chr14; 75078311 |
SUB; MISSENSE; G; G/C; SOMATIC | HYPO; VALID; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.4898C>T; p.A1633V; |
liver | carcinoma; hepatocellular_carcinoma |
c.2177C>T; p.A726V; |
liver | carcinoma; hepatocellular_carcinoma |
c.4033G>T; p.D1345Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.3317G>A; p.G1106E; |
liver | carcinoma; hepatocellular_carcinoma |
c.663C>T; p.V221V; |
NS | malignant_melanoma |
c.663C>T; p.V221V; |
NS | malignant_melanoma |
c.2205C>T; p.S735S; |
skin; upper_leg | malignant_melanoma |
c.905C>T; p.P302L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4262C>T; p.A1421V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4693C>T; p.R1565C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5386A>G; p.T1796A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5068G>A; p.A1690T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1226G>A; p.R409H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.353C>A; p.P118H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5213G>A; p.G1738D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4799G>A; p.R1600H; |
pancreas | carcinoma; acinar_carcinoma |
c.3890C>T; p.P1297L; |
pancreas | carcinoma; acinar_carcinoma |
c.739C>T; p.R247C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4070G>A; p.G1357E; |
breast | carcinoma; ductal_carcinoma |
c.1156G>A; p.G386S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.419C>T; p.P140L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1531C>A; p.P511T; |
oesophagus | carcinoma; adenocarcinoma |
c.2213G>A; p.R738H; |
oesophagus | carcinoma; adenocarcinoma |
c.1097G>A; p.R366H; |
oesophagus | carcinoma; adenocarcinoma |
c.4256G>A; p.G1419D; |
liver | carcinoma |
c.1507G>T; p.V503L; |
liver | carcinoma |
c.1659G>C; p.R553R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3317G>A; p.G1106E; |
liver | carcinoma; hepatocellular_carcinoma |
c.4735C>A; p.H1579N; |
lung | carcinoma; adenocarcinoma |
c.3427C>A; p.Q1143K; |
lung | carcinoma; adenocarcinoma |
c.2098C>A; p.R700S; |
lung | carcinoma; adenocarcinoma |
c.4284C>A; p.G1428G; |
lung | carcinoma; adenocarcinoma |
c.3787T>C; p.C1263R; |
lung | carcinoma; adenocarcinoma |
c.1850T>A; p.L617H; |
lung | carcinoma; adenocarcinoma |
c.2771C>T; p.A924V; |
lung | carcinoma; adenocarcinoma |
c.1509G>A; p.V503V; |
lung | carcinoma; adenocarcinoma |
c.3423C>T; p.D1141D; |
lung | carcinoma; adenocarcinoma |
c.3958G>A; p.D1320N; |
lung | carcinoma; adenocarcinoma |
c.1083G>T; p.K361N; |
lung | carcinoma; adenocarcinoma |
c.4054A>T; p.M1352L; |
lung | carcinoma; adenocarcinoma |
c.772G>T; p.A258S; |
lung | carcinoma; adenocarcinoma |
c.720C>T; p.A240A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.5446_5447insG; p.H1816fs*>7; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.5446_5447insC; p.H1816fs*>7; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.3005G>A; p.R1002Q; |
breast | carcinoma |
c.338G>A; p.R113Q; |
prostate | carcinoma |
c.2886G>A; p.M962I; |
liver | carcinoma |
c.2403C>A; p.V801V; |
liver | carcinoma |
c.2461G>A; p.G821R; |
lung | carcinoma; small_cell_carcinoma |
c.2406T>C; p.T802T; |
prostate | adenoma |
c.4849T>A; p.W1617R; |
lung | carcinoma; adenocarcinoma |
c.1226G>A; p.R409H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1658G>T; p.R553L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4158C>T; p.C1386C; |
lung | carcinoma; squamous_cell_carcinoma |
c.800C>T; p.S267L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3374G>A; p.R1125Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.830+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.3333G>T; p.T1111T; |
lung | carcinoma; adenocarcinoma |
c.3408G>A; p.V1136V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1142T>G; p.L381R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4303G>A; p.E1435K; |
lung | carcinoma; squamous_cell_carcinoma |
c.547A>G; p.T183A; |
lung | carcinoma; adenocarcinoma |
c.2617A>T; p.S873C; |
lung | carcinoma; adenocarcinoma |
c.3174G>T; p.R1058R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5401C>A; p.R1801S; |
lung | carcinoma; adenocarcinoma |
c.3584G>A; p.S1195N; |
lung | carcinoma; adenocarcinoma |
c.1903G>C; p.A635P; |
lung | carcinoma; adenocarcinoma |
c.3709G>A; p.E1237K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.973G>C; p.D325H; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.3932C>G; p.T1311S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2313G>T; p.Q771H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.629G>T; p.R210L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3316G>A; p.G1106R; |
ovary | carcinoma; serous_carcinoma |
c.1490G>T; p.G497V; |
lung | carcinoma; squamous_cell_carcinoma |
c.5045C>A; p.P1682H; |
lung | carcinoma; adenocarcinoma |
c.5079C>A; p.N1693K; |
lung | carcinoma; squamous_cell_carcinoma |
c.3584G>A; p.S1195N; |
lung | carcinoma; squamous_cell_carcinoma |
c.527G>C; p.G176A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1536G>A; p.P512P; |
lung | carcinoma; adenocarcinoma |
c.164G>T; p.R55L; |
lung | carcinoma; adenocarcinoma |
c.1168G>T; p.D390Y; |
lung | carcinoma; adenocarcinoma |
c.4600G>A; p.D1534N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.417G>T; p.A139A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4160G>A; p.R1387H; |
breast | carcinoma |
c.4843G>A; p.E1615K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2212C>T; p.R738C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3291T>C; p.C1097C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3164G>A; p.C1055Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3588C>T; p.H1196H; |
breast | carcinoma |
c.5446delC; p.H1816fs*>6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4898C>T; p.A1633V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4383G>A; p.E1461E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5345A>G; p.N1782S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2326G>A; p.V776I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3392A>T; p.D1131V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4798C>T; p.R1600C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1902C>T; p.D634D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1053C>A; p.I351I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4937A>C; p.E1646A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2956G>A; p.V986I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1187G>A; p.R396H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5446delC; p.H1816fs*>6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3875G>A; p.G1292D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4667_4668insC; p.L1557fs*22; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2140C>T; p.L714L; |
breast | carcinoma |
c.4114T>G; p.C1372G; |
breast | carcinoma |
c.4820C>T; p.T1607M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4476C>T; p.F1492F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3704A>G; p.N1235S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1155C>T; p.G385G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5281G>C; p.E1761Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4095G>T; p.E1365D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4920C>T; p.R1640R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4034A>G; p.D1345G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3376C>T; p.P1126S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2435C>T; p.A812V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1536G>A; p.P512P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.950C>T; p.P317L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4798C>T; p.R1600C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5240G>A; p.R1747H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3175G>A; p.A1059T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.867G>T; p.Q289H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1484G>A; p.R495Q; |
breast | carcinoma |
c.2714G>A; p.R905H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3859C>G; p.L1287V; |
urinary_tract; bladder | carcinoma |
c.1389delC; p.N464fs*6; |
breast | carcinoma |
c.4808G>A; p.R1603H; |
breast | carcinoma |
c.5187C>T; p.F1729F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3446G>A; p.G1149D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4092G>A; p.V1364V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5338G>A; p.D1780N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.791C>T; p.A264V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5446delC; p.H1816fs*>6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5446delC; p.H1816fs*>6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3565_3566insC; p.H1189fs*57; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2702G>A; p.R901H; |
urinary_tract; bladder | carcinoma |
c.4502G>A; p.R1501Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3037G>T; p.E1013*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2954G>A; p.C985Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2031G>A; p.S677S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3610G>A; p.A1204T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1756delG; p.V586fs*1; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3305T>C; p.V1102A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1954C>A; p.L652I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2105G>A; p.G702D; |
breast | carcinoma |
c.1519G>A; p.V507M; |
urinary_tract; bladder | carcinoma |
c.1872C>T; p.N624N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.874G>A; p.V292M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1905G>A; p.A635A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.818C>T; p.S273L; |
urinary_tract; bladder | carcinoma |
c.4769T>C; p.V1590A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3368delG; p.G1123fs*55; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3017G>T; p.G1006V; |
prostate | carcinoma |
c.2693G>A; p.G898E; |
skin | malignant_melanoma |
c.2896G>A; p.G966R; |
skin | malignant_melanoma |
c.1883C>T; p.T628I; |
skin | malignant_melanoma |
c.3403G>A; p.D1135N; |
skin | malignant_melanoma |
c.3361G>A; p.D1121N; |
skin; mucosal | malignant_melanoma |