Varaico: Literature-Extracted Genetic Variants

Gene:GDF3
Variant:p.N193S

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
1 paper
NM_020634.3
p.N193S
c.578A>G
Surrounding Variants
5 papers
NM_020634.3
p.R195Q
c.584G>A
1 paper
NM_020634.3
p.G199E
c.596G>A
1 paper
NM_020634.3
p.F181delFs
c.543delG
1 paper
NM_020634.3
p.G177C
c.529G>T
4 papers
NM_020634.3
p.S212L
c.635C>T
8 papers
NM_020634.3
p.G213R
c.637G>C
8 papers
NM_020634.3
p.G213R
c.637G>A
1 paper
NM_020634.3
p.N215S
c.644A>G
1 paper
NM_020634.3
p.F148S
c.443T>C
1 paper
NM_020634.3
p.A146T
c.436G>A
1 paper
NM_020634.3
p.H244_P245del2
c.730_734del6
1 paper
NM_020634.3
p.R247W
c.739C>T
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