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.G17V

c.50G>T

Surrounding Variants

1 paper

NM_000479.5

p.L16L

c.48G>A

2 papers

NM_000479.5

p.G17_A18del2

c.49_53del6

3 papers

NM_000479.5

p.A18V

c.53C>T

1 paper

NM_000479.5

p.L19M

c.55C>A

1 paper

NM_000479.5

p.L19Q

c.56T>A

1 paper

NM_000479.5

p.L20ins9

c.59_60ins27

1 paper

NM_000479.5

p.L13M

c.37C>A

1 paper

NM_000479.5

p.T22I

c.65C>T

15 papers

NM_000479.5

p.V12G

c.35T>G

1 paper

NM_000479.5

p.A24T

c.70G>A

1 paper

NM_000479.5

p.A10V

c.29C>T

1 paper

NM_000479.5

p.L25insFs

c.74_75insG