| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 269 |
Name | AMHR2 |
Synonymous | AMHR|MISR2|MISRII|MRII;anti-Mullerian hormone receptor, type II;AMHR2;anti-Mullerian hormone receptor, type II |
Definition | AMH type II receptor|MIS type II receptor|Mullerian inhibiting substance type II receptor|anti-Muellerian hormone type II receptor|anti-Muellerian hormone type-2 receptor |
Position | 12q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for AMHR2 | ||
PCGP somatic mutation [Top] | ||
There is no record for AMHR2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1042G>T; p.A348S; |
lung | carcinoma; small_cell_carcinoma |
c.1388G>A; p.R463H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1096G>A; p.A366T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.742G>A; p.E248K; |
skin; shoulder | malignant_melanoma |
c.476_477insCCT; p.L162_G163insL; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.818C>T; p.S273F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.64C>A; p.R22R; |
lung | carcinoma; adenocarcinoma |
c.1285C>A; p.P429T; |
lung | carcinoma; adenocarcinoma |
c.1120G>T; p.G374C; |
lung | carcinoma; adenocarcinoma |
c.1219C>T; p.R407*; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1676C>T; p.P559L; |
skin; extremity | malignant_melanoma |
c.821G>T; p.G274V; |
ovary | carcinoma; serous_carcinoma |
c.997G>A; p.D333N; |
breast | carcinoma |
c.1138G>A; p.E380K; |
breast | carcinoma |
c.1245G>A; p.L415L; |
breast | carcinoma |
c.150C>A; p.P50P; |
liver | carcinoma |
c.1416C>T; p.C472C; |
lung | carcinoma; small_cell_carcinoma |
c.1361G>C; p.W454S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.750A>G; p.P250P; |
lung | carcinoma; adenocarcinoma |
c.1463G>T; p.W488L; |
lung | carcinoma; squamous_cell_carcinoma |
c.762C>T; p.H254H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1117C>T; p.Q373*; |
lung | carcinoma; squamous_cell_carcinoma |
c.995G>A; p.R332Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.372T>G; p.P124P; |
ovary | carcinoma; serous_carcinoma |
c.401C>G; p.S134C; |
lung | carcinoma; squamous_cell_carcinoma |
c.527G>C; p.R176T; |
lung | carcinoma; squamous_cell_carcinoma |
c.679G>C; p.V227L; 12:52105797-52105797 |
ovary | carcinoma; serous_carcinoma |
c.1343C>T; p.P448L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1216C>A; p.R406R; |
lung | carcinoma; adenocarcinoma |
c.126G>A; p.L42L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1390C>G; p.P464A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1634G>A; p.R545K; |
lung | carcinoma; squamous_cell_carcinoma |
c.556A>G; p.R186G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.810C>T; p.R270R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.793C>T; p.R265W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.474C>G; p.L158L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.309C>T; p.G103G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.175C>T; p.R59C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.570C>T; p.G190G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.687C>A; p.I229I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.870C>G; p.Y290*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.765C>A; p.D255E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.308G>A; p.G103D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.65G>A; p.R22Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.658G>C; p.G220R; |
breast | carcinoma |
c.717G>T; p.Q239H; |
breast | carcinoma |
c.846T>C; p.H282H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.618C>T; p.S206S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.995G>A; p.R332Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1673G>A; p.G558D; |
breast | carcinoma |
c.1431T>C; p.P477P; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1011G>A; p.Q337Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.507G>A; p.L169L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1388G>A; p.R463H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.534A>G; p.R178R; |
urinary_tract; bladder | carcinoma |
c.1673G>A; p.G558D; |
skin | malignant_melanoma |
c.142G>A; p.E48K; |
skin | malignant_melanoma |
c.742G>A; p.E248K; |
skin | malignant_melanoma |
c.34C>T; p.P12S; |
skin; scalp | malignant_melanoma |
c.1627C>T; p.P543S; |
skin | malignant_melanoma |
c.742G>A; p.E248K; |
skin; mucosal | malignant_melanoma |