Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.S187G

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.S187G
c.559A>G
Surrounding Variants
2 papers
NM_005260.7
p.S186S
c.558T>C
2 papers
NM_005260.7
p.S187N
c.560G>A
15 papers
NM_005260.7
p.S186Y
c.557C>A
1 paper
NM_005260.7
p.R188R
c.564G>A
1 paper
NM_005260.7
p.K184K
c.552G>A
2 papers
NM_005260.7
p.T189I
c.566C>T
3 papers
NM_005260.7
p.E182D
c.546G>T
18 papers
NM_005260.7
p.E182E
c.546G>A
1 paper
NM_005260.7
p.E182K
c.544G>A
1 paper
NM_005260.7
p.R192K
c.575G>A
1 paper
NM_005260.7
p.A193D
c.578C>A
1 paper
NM_005260.7
p.M179I
c.537G>A
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