Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.R316H

GDF9

208 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

TGF_betaaa 264–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005260.7
p.R316H
c.947G>A
Surrounding Variants
1 paper
NM_005260.7
p.R316L
c.947G>T
3 papers
NM_005260.7
p.R316C
c.946C>T
1 paper
NM_005260.7
p.H315Y
c.943C>T
1 paper
NM_005260.7
p.R318C
c.952C>T
1 paper
NM_005260.7
p.R318S
c.952C>A
1 paper
NM_005260.7
p.S312S
c.936T>C
1 paper
NM_005260.7
p.G320S
c.958G>A
1 paper
NM_005260.7
p.Q321*
c.961C>T
1 paper
NM_005260.7
p.R311K
c.932G>A
1 paper
NM_005260.7
p.E308A
c.923A>C
1 paper
NM_005260.7
p.S325C
c.973A>T
1 paper
NM_005260.7
p.S325R
c.973A>C
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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."