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.A86T

c.256G>A

Surrounding Variants

1 paper

NM_000479.5

p.G85E

c.254G>A

1 paper

NM_000479.5

p.V87M

c.259G>A

2 papers

NM_000479.5

p.L84L

c.252G>A

1 paper

NM_000479.5

p.G85delFs

c.253_254delGG

1 paper

NM_000479.5

p.Q88E

c.262C>G

1 paper

NM_000479.5

p.L84L

c.250C>T

1 paper

NM_000479.5

p.Q88*

c.262C>T

1 paper

NM_000479.5

p.Q88R

c.263A>G

1 paper

NM_000479.5

p.A90del1

c.268_269delGCC

1 paper

NM_000479.5

p.A90T

c.268G>A

1 paper

NM_000479.5

p.A90P

c.268G>C

1 paper

NM_000479.5

p.Q81K

c.241C>A