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

3 papers

NM_000479.5

p.W494*

c.1482G>A

Surrounding Variants

3 papers

NM_000479.5

p.W494*

c.1481G>A

1 paper

NM_000479.5

p.Q496*

c.1486C>T

1 paper

NM_000479.5

p.G493R

c.1477G>C

10 papers

NM_000479.5

p.Q496H

c.1488G>C

10 papers

NM_000479.5

p.Q496H

c.1488G>T

1 paper

NM_000479.5

p.S497A

c.1489T>G

1 paper

NM_000479.5

p.S497insFs

c.1491dupC

1 paper

NM_000479.5

p.C492R

c.1474T>C

5 papers

NM_000479.5

p.C488Y

c.1463G>A

4 papers

NM_000479.5

p.R502L

c.1505G>T

1 paper

NM_000479.5

p.N487_Q489del0

c.1459_1467del9

4 papers

NM_000479.5

p.N486T

c.1457A>C