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.C55delFs

c.163delT

Surrounding Variants

1 paper

NM_000479.5

p.L54Q

c.161T>A

1 paper

NM_000479.5

p.C55S

c.163T>A

1 paper

NM_000479.5

p.C55S

c.164G>C

1 paper

NM_000479.5

p.A58_L59ins0

c.173_175dupCAC

1 paper

NM_000479.5

p.A58A

c.174A>T

11 papers

NM_000479.5

p.S49I

c.146G>T

1 paper

NM_000479.5

p.G60V

c.179G>T

1 paper

NM_000479.5

p.G48G

c.144C>T

1 paper

NM_000479.5

p.G48C

c.142G>T

1 paper

NM_000479.5

p.P47fs

c.139_140fs

3 papers

NM_000479.5

p.P46A

c.136C>G

1 paper

NM_000479.5

p.N64S

c.191A>G