Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.R388K

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
1 paper
NM_005260.7
p.R388K
c.1163G>A
Surrounding Variants
1 paper
NM_005260.7
p.P387R
c.1160C>G
1 paper
NM_005260.7
p.P387A
c.1159C>G
1 paper
NM_005260.7
p.V390G
c.1169T>G
1 paper
NM_005260.7
p.C386F
c.1157G>T
3 papers
NM_005260.7
p.G391R
c.1171G>C
3 papers
NM_005260.7
p.G391R
c.1171G>A
1 paper
NM_005260.7
p.R393W
c.1177C>T
1 paper
NM_005260.7
p.Y394C
c.1181A>G
1 paper
NM_005260.7
p.C382R
c.1144T>C
1 paper
NM_005260.7
p.Y381H
c.1141T>C
1 paper
NM_005260.7
p.N378S
c.1133A>G
1 paper
NM_005260.7
p.R376M
c.1127G>T
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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."