Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.D57Y

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
6 papers
NM_005260.7
p.D57Y
c.169G>T
Surrounding Variants
2 papers
NM_005260.7
p.D57N
c.169G>A
1 paper
NM_005260.7
p.R58G
c.172A>G
1 paper
NM_005260.7
p.E55D
c.165G>T
1 paper
NM_005260.7
p.E55D
c.165G>C
1 paper
NM_005260.7
p.E55E
c.165G>A
1 paper
NM_005260.7
p.E55K
c.163G>A
1 paper
NM_005260.7
p.I53I
c.159A>T
3 papers
NM_005260.7
p.L61F
c.181C>T
1 paper
NM_005260.7
p.I53L
c.157A>T
2 papers
NM_005260.7
p.L61L
c.183C>A
1 paper
NM_005260.7
p.L62F
c.184C>T
1 paper
NM_005260.7
p.L62P
c.185T>C
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