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.L291P

c.872T>C

Surrounding Variants

1 paper

NM_000479.5

p.L291R

c.872T>G

1 paper

NM_000479.5

p.F290Y

c.869T>A

1 paper

NM_000479.5

p.F290S

c.869T>C

1 paper

NM_000479.5

p.P289T

c.865C>A

9 papers

NM_000479.5

p.D288E

c.864C>A

10 papers

NM_000479.5

p.D288E

c.864C>G

1 paper

NM_000479.5

p.R296C

c.886C>T

1 paper

NM_000479.5

p.R296H

c.887G>A

1 paper

NM_000479.5

p.L297L

c.889C>T

2 papers

NM_000479.5

p.P284S

c.850C>T

1 paper

NM_000479.5

p.V298V

c.894G>T

1 paper

NM_000479.5

p.L301_A310delFs

c.902_929del28