Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.K450R

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.K450R
c.1349A>G
Surrounding Variants
3 papers
NM_005260.7
p.C451C
c.1353C>T
1 paper
NM_005260.7
p.T452I
c.1355C>T
1 paper
NM_005260.7
p.A448T
c.1342G>A
1 paper
NM_005260.7
p.C453S
c.1357T>A
1 paper
NM_005260.7
p.C453S
c.1358G>C
1 paper
NM_005260.7
p.C453Y
c.1358G>A
15 papers
NM_005260.7
p.R454C
c.1360C>T
1 paper
NM_005260.7
p.R454S
c.1360C>A
1 paper
NM_005260.7
p.M446R
c.1337T>G
1 paper
NM_005260.7
p.M446T
c.1337T>C
2 papers
NM_005260.7
p.R454H
c.1361G>A
1 paper
NM_005260.7
p.D445V
c.1334A>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."