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.D107_R108delFs

c.321_324del4

Surrounding Variants

3 papers

NM_000479.5

p.G106S

c.316G>A

1 paper

NM_000479.5

p.G106R

c.316G>C

1 paper

NM_000479.5

p.Q109E

c.325C>G

2 papers

NM_000479.5

p.Q109fs

c.325_326fs

1 paper

NM_000479.5

p.Q109Q

c.327G>A

1 paper

NM_000479.5

p.N104_G106Fs

c.312_317delinsAGFs

1 paper

NM_000479.5

p.N104I

c.311A>T

1 paper

NM_000479.5

p.N104D

c.310A>G

1 paper

NM_000479.5

p.C103Y

c.308G>A

1 paper

NM_000479.5

p.V102I

c.304G>A

4 papers

NM_000479.5

p.G101G

c.303G>A

3 papers

NM_000479.5

p.L115delFs

c.343_344delCT