Varaico: Literature-Extracted Genetic Variants

AMH

332 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

AMH_Naa 77–442UCSCAnti-Mullerian hormone, N terminal region

TGF_betaaa 461–559UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

anti-Mullerian hormone

HGNC Alias Names

Muellerian-inhibiting factor; Muellerian-inhibiting substance

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000479.5

p.A386S

c.1156G>T

Surrounding Variants

1 paper

NM_000479.5

p.A386T

c.1156G>A

2 papers

NM_000479.5

p.A385V

c.1154C>T

1 paper

NM_000479.5

p.A387delFs

c.1161delT

1 paper

NM_000479.5

p.A388_R391delFs

c.1162_1172del11

2 papers

NM_000479.5

p.Q384*

c.1150C>T

8 papers

NM_000479.5

p.E389*

c.1165G>T

6 papers

NM_000479.5

p.E382*

c.1144G>T

1 paper

NM_000479.5

p.P394L

c.1181C>T

2 papers

NM_000479.5

p.R377H

c.1130G>A

2 papers

NM_000479.5

p.R377C

c.1129C>T

1 paper

NM_000479.5

p.L396fs

c.1186_1187fs

1 paper

NM_000479.5

p.P398L

c.1193C>T