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.N64S

c.191A>G

Surrounding Variants

4 papers

NM_000479.5

p.L70insFs

c.208dupC

4 papers

NM_000479.5

p.L70delFs

c.208delC

1 paper

NM_000479.5

p.S68_P69delFs

c.204_205delCC

1 paper

NM_000479.5

p.G60V

c.179G>T

1 paper

NM_000479.5

p.A58A

c.174A>T

2 papers

NM_000479.5

p.L70fs

c.208_209fs

2 papers

NM_000479.5

p.L70delFs

c.209delT

4 papers

NM_000479.5

p.L70fs

c.208_209fs

9 papers

NM_000479.5

p.L70P

c.209T>C

1 paper

NM_000479.5

p.L70R

c.209T>G

1 paper

NM_000479.5

p.A58_L59ins0

c.173_175dupCAC

1 paper

NM_000479.5

p.R71W

c.211C>T