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.R2W

c.4C>T

Surrounding Variants

3 papers

NM_000479.5

p.M1I

c.3G>A

3 papers

NM_000479.5

p.M1I

c.3G>C

5 papers

NM_000479.5

p.M1I

c.3G>T

2 papers

NM_000479.5

p.M1T

c.2T>C

1 paper

NM_000479.5

p.M1L

c.1A>C

1 paper

NM_000479.5

p.M1V

c.1A>G

1 paper

NM_000479.5

p.M1insFs

c.1dupA

1 paper

NM_000479.5

p.D3E

c.9C>G

1 paper

NM_000479.5

p.P5T

c.13C>A

2 papers

NM_000479.5

p.L6delFs

c.17_18delTC

1 paper

NM_000479.5

p.P5L

c.14C>T

1 paper

NM_000479.5

p.L6_L9del4

c.16_26del12