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

1 paper

NM_000479.5

p.R435C

c.1303C>T

Surrounding Variants

1 paper

NM_000479.5

p.V436L

c.1306G>C

1 paper

NM_000479.5

p.V436L

c.1306G>T

1 paper

NM_000479.5

p.E437E

c.1311G>A

1 paper

NM_000479.5

p.R439G

c.1315C>G

3 papers

NM_000479.5

p.R439C

c.1315C>T

1 paper

NM_000479.5

p.A430V

c.1289C>T

1 paper

NM_000479.5

p.R439R

c.1317C>T

1 paper

NM_000479.5

p.D442_G447delFs

c.1325_1340del16

1 paper

NM_000479.5

p.D442H

c.1324G>C

1 paper

NM_000479.5

p.D442fs

c.1324_1325fs

4 papers

NM_000479.5

p.L426R

c.1277T>G

1 paper

NM_000479.5

p.L426insFs

c.1277dupT