Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.C176Y

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.C176Y
c.527G>A
Surrounding Variants
1 paper
NM_005260.7
p.C176R
c.526T>C
1 paper
NM_005260.7
p.N177K
c.531T>G
1 paper
NM_005260.7
p.N177K
c.531T>A
2 papers
NM_005260.7
p.C174Y
c.521G>A
2 papers
NM_005260.7
p.L178L
c.534A>G
1 paper
NM_005260.7
p.M179I
c.537G>A
1 paper
NM_005260.7
p.K173*
c.517A>T
1 paper
NM_005260.7
p.V172D
c.515T>A
1 paper
NM_005260.7
p.V172I
c.514G>A
1 paper
NM_005260.7
p.E182K
c.544G>A
1 paper
NM_005260.7
p.S170C
c.509C>G
3 papers
NM_005260.7
p.E182D
c.546G>T
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