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.L407V

c.1219C>G

Surrounding Variants

2 papers

NM_000479.5

p.L407L

c.1219C>T

3 papers

NM_000479.5

p.A405P

c.1213G>C

1 paper

NM_000479.5

p.L404insFs

c.1211_1212insTA

1 paper

NM_000479.5

p.L410V

c.1228C>G

2 papers

NM_000479.5

p.L410P

c.1229T>C

1 paper

NM_000479.5

p.C411S

c.1231T>A

1 paper

NM_000479.5

p.C411S

c.1232G>C

1 paper

NM_000479.5

p.P402R

c.1205C>G

1 paper

NM_000479.5

p.P415A

c.1243C>G

1 paper

NM_000479.5

p.A399_P402del0

c.1196_1204del9

1 paper

NM_000479.5

p.P398L

c.1193C>T

1 paper

NM_000479.5

p.L396fs

c.1186_1187fs