| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3270 |
Name | HRC |
Synonymous | -;histidine rich calcium binding protein;HRC;histidine rich calcium binding protein |
Definition | sarcoplasmic reticulum histidine-rich calcium-binding protein |
Position | 19q13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HRC | ||
PCGP somatic mutation [Top] | ||
There is no record for HRC | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.458C>A; p.P153H; |
liver | carcinoma; hepatocellular_carcinoma |
c.718C>A; p.H240N; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.455T>C; p.L152P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm |
c.455T>C; p.L152P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1016A>G; p.H339R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.87G>T; p.Q29H; |
pancreas | carcinoma; acinar_carcinoma |
c.340G>A; p.G114R; |
liver | carcinoma |
c.71delC; p.P24fs*3; |
oesophagus | carcinoma; adenocarcinoma |
c.2030G>T; p.S677I; |
liver | carcinoma |
c.1561G>A; p.D521N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.1269C>A; p.P423P; |
lung | carcinoma; adenocarcinoma |
c.1397delC; p.P466fs*12; |
lung | carcinoma; adenocarcinoma |
c.675G>T; p.E225D; |
lung | carcinoma; adenocarcinoma |
c.1413C>G; p.V471V; |
lung | carcinoma; adenocarcinoma |
c.1397C>A; p.P466Q; |
lung | carcinoma; adenocarcinoma |
c.1522G>A; p.G508S; |
large_intestine; caecum | adenoma |
c.782_784delATG; p.D261delD; |
liver | carcinoma |
c.1359delT; p.Q454fs*8; |
lung | carcinoma; small_cell_carcinoma |
c.333C>A; p.H111Q; |
central_nervous_system; spinal_cord | glioma; ependymoma |
c.969C>T; p.D323D; |
endometrium | carcinoma; serous_carcinoma |
c.1201A>G; p.S401G; 19:54349106-54349106 |
ovary | carcinoma; serous_carcinoma |
c.299G>T; p.G100V; |
ovary | carcinoma; serous_carcinoma |
c.1481C>G; p.S494C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2062C>G; p.Q688E; |
lung | carcinoma; squamous_cell_carcinoma |
c.775G>C; p.D259H; |
lung | carcinoma; adenocarcinoma |
c.320G>A; p.R107K; |
lung | carcinoma; adenocarcinoma |
c.732A>G; p.E244E; |
lung | carcinoma; adenocarcinoma |
c.799A>G; p.R267G; |
lung | carcinoma; adenocarcinoma |
c.64C>T; p.L22F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1396C>T; p.P466S; |
lung | carcinoma; adenocarcinoma |
c.974G>A; p.R325K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.605_606insGGAGGAGGA; p.E204_A205insEEE; |
breast | carcinoma |
c.751G>A; p.D251N; |
breast | carcinoma |
c.673G>T; p.E225*; |
breast | carcinoma |
c.1203T>C; p.S401S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1495G>A; p.D499N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1744C>T; p.P582S; |
large_intestine; colon | NS |
c.1661A>G; p.E554G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.936T>C; p.T312T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1212G>T; p.E404D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.339C>T; p.V113V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.397G>A; p.G133R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.744T>C; p.D248D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.786C>A; p.V262V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457delA; p.K486fs*45; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.892C>T; p.R298*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.423C>A; p.D141E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1758C>G; p.I586M; |
breast | carcinoma |
c.1635G>T; p.E545D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.992C>A; p.A331D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.741_743delCGA; p.D261delD; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537G>A; p.R179R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1397delC; p.P466fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1106T>A; p.V369D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.770_784del15; p.D257_D261delDDDDD; |
breast | carcinoma |
c.582G>A; p.E194E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2038G>A; p.D680N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.786C>T; p.V262V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.784_786delGTC; p.V262delV; |
endometrium | carcinoma; endometrioid_carcinoma |
c.782A>T; p.D261V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.825C>A; p.G275G; |
urinary_tract; bladder | carcinoma |
c.1831G>T; p.G611C; |
prostate | carcinoma; adenocarcinoma |
c.1030A>C; p.R344R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1203T>C; p.S401S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1203T>C; p.S401S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1203T>C; p.S401S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.487G>A; p.E163K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.582G>A; p.E194E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.377A>G; p.E126G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.999A>G; p.S333S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1144_1146delGAG; p.E382delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.984G>T; p.E328D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.61C>T; p.L21F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1600G>A; p.E534K; |
breast | carcinoma |
c.166G>A; p.E56K; |
urinary_tract; bladder | carcinoma |
c.1399G>C; p.G467R; |
urinary_tract; bladder | carcinoma |
c.2004C>G; p.V668V; |
breast | carcinoma |
c.68C>A; p.P23H; |
breast | carcinoma |
c.770_784del15; p.D257_D261delDDDDD; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1284G>A; p.E428E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1638A>G; p.E546E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1203T>C; p.S401S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.28G>A; p.A10T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1438G>A; p.D480N; |
prostate | carcinoma |
c.913A>G; p.N305D; |
prostate | carcinoma |