Varaico: Literature-Extracted Genetic Variants

Gene:GDF3
Variant:p.A251T

GDF3

83 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 263–363UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020634.3
p.A251T
c.751G>A
Surrounding Variants
1 paper
NM_020634.3
p.R249G
c.745A>G
1 paper
NM_020634.3
p.R247Q
c.740G>A
1 paper
NM_020634.3
p.R247W
c.739C>T
1 paper
NM_020634.3
p.H244_P245del2
c.730_734del6
1 paper
NM_020634.3
p.C260Y
c.779G>A
10 papers
NM_020634.3
p.R266C
c.796C>T
6 papers
NM_020634.3
p.R274W
c.820C>T
1 paper
NM_020634.3
p.L276M
c.826C>A
1 paper
NM_020634.3
p.I282_A284insFs
c.844_850dup7
1 paper
NM_020634.3
p.N215S
c.644A>G
8 papers
NM_020634.3
p.G213R
c.637G>C
8 papers
NM_020634.3
p.G213R
c.637G>A
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