Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.E204fs

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.E204fs
c.610_611fs
Surrounding Variants
1 paper
NM_005260.7
p.E204delFs
c.612delT
2 papers
NM_001288828.3
p.Q114*
c.340C>T
NM_005260.7
p.Q202*
c.604C>T
4 papers
NM_005260.7
p.G206E
c.617G>A
1 paper
NM_005260.7
p.T198T
c.594C>T
1 paper
NM_005260.7
p.H209_K210delFs
c.627_628delTG
3 papers
NM_005260.7
p.S196S
c.588A>C
1 paper
NM_005260.7
p.I214T
c.641T>C
1 paper
NM_005260.7
p.A193D
c.578C>A
1 paper
NM_005260.7
p.D215insFs
c.644dupA
1 paper
NM_005260.7
p.R192K
c.575G>A
20 papers
NM_005260.7
p.V216M
c.646G>A
2 papers
NM_005260.7
p.T189I
c.566C>T
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