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.G127G

c.381G>A

Surrounding Variants

4 papers

NM_000479.5

p.Q128*

c.382C>T

1 paper

NM_000479.5

p.Q128R

c.383A>G

2 papers

NM_000479.5

p.G127_Q128del2

c.379_383del6

1 paper

NM_000479.5

p.R129H

c.386G>A

1 paper

NM_000479.5

p.P125L

c.374C>T

1 paper

NM_000479.5

p.P125S

c.373C>T

2 papers

NM_000479.5

p.L130delFs

c.390delG

1 paper

NM_000479.5

p.D124E

c.372C>A

1 paper

NM_000479.5

p.D124E

c.372C>G

1 paper

NM_000479.5

p.D124G

c.371A>G

1 paper

NM_000479.5

p.D124_P125delFs

c.370_373del4

1 paper

NM_000479.5

p.R123insFs

c.368_369insT