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

9 papers

NM_000479.5

p.L70P

c.209T>C

Surrounding Variants

1 paper

NM_000479.5

p.L70R

c.209T>G

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

1 paper

NM_000479.5

p.R71W

c.211C>T

1 paper

NM_000479.5

p.V72M

c.214G>A

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.V73fs

c.217_218fs

1 paper

NM_000479.5

p.G74E

c.221G>A

1 paper

NM_000479.5

p.A75_E80insFs

c.224_240dup17