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.D42_L43delFs

c.125_129del5

Surrounding Variants

1 paper

NM_000479.5

p.E41Q

c.121G>C

2 papers

NM_000479.5

p.L43delFs

c.127_128delTT

1 paper

NM_000479.5

p.R40Q

c.119G>A

1 paper

NM_000479.5

p.L43M

c.127T>A

2 papers

NM_000479.5

p.L43fs

c.127_128fs

1 paper

NM_000479.5

p.R40G

c.118C>G

4 papers

NM_000479.5

p.R40*

c.118C>T

1 paper

NM_000479.5

p.L37L

c.111C>T

3 papers

NM_000479.5

p.P46A

c.136C>G

1 paper

NM_000479.5

p.P47fs

c.139_140fs

1 paper

NM_000479.5

p.G48C

c.142G>T

2 papers

NM_000479.5

p.S35fs

c.103_104fs