Varaico: Literature-Extracted Genetic Variants

Gene:AMH

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
1–12 of 460 variants
15 papers
NM_000479.5
p.V12G
c.35T>G
12 papers
NM_000479.5
p.H506Q
c.1518C>A
12 papers
NM_000479.5
p.H506Q
c.1518C>G
11 papers
NM_000479.5
p.S49I
c.146G>T
11 papers
NM_000479.5
p.R123W
c.367C>T
11 papers
NM_000479.5
p.P151S
c.451C>T
11 papers
NM_000479.5
p.R302Q
c.905G>A
10 papers
NM_000479.5
p.D288E
c.864C>G
10 papers
NM_000479.5
p.Q325R
c.974A>G
10 papers
NM_000479.5
p.Q496H
c.1488G>C
10 papers
NM_000479.5
p.Q496H
c.1488G>T
9 papers
NM_000479.5
p.L70P
c.209T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."