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

2 papers

NM_000479.5

p.W371*

c.1113G>A

Surrounding Variants

2 papers

NM_000479.5

p.W371*

c.1112G>A

4 papers

NM_000479.5

p.A372V

c.1115C>T

1 paper

NM_000479.5

p.P370_T373del4

c.1108_1118del12

1 paper

NM_000479.5

p.S368_A369insT

c.1102_1106ins3

2 papers

NM_000479.5

p.P366L

c.1097C>T

2 papers

NM_000479.5

p.R377C

c.1129C>T

2 papers

NM_000479.5

p.R377H

c.1130G>A

1 paper

NM_000479.5

p.D365D

c.1095C>T

1 paper

NM_000479.5

p.D365G

c.1094A>G

1 paper

NM_000479.5

p.P362A

c.1084C>G

4 papers

NM_000479.5

p.P362S

c.1084C>T

6 papers

NM_000479.5

p.E382*

c.1144G>T