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.E343Q

c.1027G>C

Surrounding Variants

2 papers

NM_000479.5

p.E343_E344del2

c.1027_1031del6

1 paper

NM_000479.5

p.G342A

c.1025G>C

2 papers

NM_000479.5

p.E344K

c.1030G>A

1 paper

NM_000479.5

p.L350del1

c.1048_1050delCTG

1 paper

NM_000479.5

p.L346L

c.1038G>A

3 papers

NM_000479.5

p.L339P

c.1016T>C

1 paper

NM_000479.5

p.R338H

c.1013G>A

1 paper

NM_000479.5

p.L349L

c.1047G>A

5 papers

NM_000479.5

p.P352S

c.1054C>T

2 papers

NM_000479.5

p.D332G

c.995A>G

1 paper

NM_000479.5

p.D332H

c.994G>C

2 papers

NM_000479.5

p.S331L

c.992C>T