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.V508A

c.1523T>C

Surrounding Variants

12 papers

NM_000479.5

p.H506Q

c.1518C>A

2 papers

NM_000479.5

p.V508ins0

c.1522_1524dupGTG

12 papers

NM_000479.5

p.H506Q

c.1518C>G

1 paper

NM_000479.5

p.H506P

c.1517A>C

1 paper

NM_000479.5

p.Y503H

c.1507T>C

4 papers

NM_000479.5

p.R502L

c.1505G>T

4 papers

NM_000479.5

p.V515A

c.1544T>C

1 paper

NM_000479.5

p.A518V

c.1553C>T

1 paper

NM_000479.5

p.A519P

c.1555G>C

9 papers

NM_000479.5

p.A519V

c.1556C>T

1 paper

NM_000479.5

p.S497A

c.1489T>G

1 paper

NM_000479.5

p.S497insFs

c.1491dupC