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.L115_R116Fs

c.343_346delinsATFs

Surrounding Variants

1 paper

NM_000479.5

p.L115fs

c.343_344fs

2 papers

NM_000479.5

p.L115fs

c.343_344fs

1 paper

NM_000479.5

p.R116Fs

c.346delinsATFs

1 paper

NM_000479.5

p.S114P

c.340T>C

1 paper

NM_000479.5

p.R116Q

c.347G>A

1 paper

NM_000479.5

p.R116P

c.347G>C

3 papers

NM_000479.5

p.L115delFs

c.343_344delCT

3 papers

NM_000479.5

p.R117W

c.349C>T

1 paper

NM_000479.5

p.R117Q

c.350G>A

6 papers

NM_000479.5

p.L118P

c.353T>C

3 papers

NM_000479.5

p.A120P

c.358G>C

1 paper

NM_000479.5

p.Q109Q

c.327G>A