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.V176delFs

c.527_528delTG

Surrounding Variants

2 papers

NM_000479.5

p.V176fs

c.526_527fs

2 papers

NM_000479.5

p.V174G

c.521T>G

1 paper

NM_000479.5

p.V174_R178Fs

c.522_534delinsGGFs

1 paper

NM_000479.5

p.V174I

c.520G>A

1 paper

NM_000479.5

p.E173D

c.519G>C

1 paper

NM_000479.5

p.E173D

c.519G>T

1 paper

NM_000479.5

p.R178T

c.533G>C

2 papers

NM_000479.5

p.A179delFs

c.536delC

1 paper

NM_000479.5

p.P170R

c.509C>G

1 paper

NM_000479.5

p.L181del1

c.541_543delCTG

1 paper

NM_000479.5

p.L181V

c.541C>G

4 papers

NM_000479.5

p.P182P

c.546G>A