Varaico: Literature-Extracted Genetic Variants

Gene:GDF3
Variant:p.V328L

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.V328L
c.982G>T
Surrounding Variants
1 paper
NM_020634.3
p.V328L
c.982G>C
2 papers
NM_020634.3
p.P325L
c.974C>T
1 paper
NM_020634.3
p.P331L
c.992C>T
1 paper
NM_020634.3
p.T332T
c.996C>T
1 paper
NM_020634.3
p.V320F
c.958G>T
1 paper
NM_020634.3
p.I337L
c.1009A>C
1 paper
NM_020634.3
p.F312S
c.935T>C
1 paper
NM_020634.3
p.D346G
c.1037A>G
1 paper
NM_020634.3
p.I349T
c.1046T>C
1 paper
NM_020634.3
p.L305R
c.914T>G
6 papers
NM_020634.3
p.L305P
c.914T>C
1 paper
NM_020634.3
p.L301L
c.903G>A
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