Varaico: Literature-Extracted Genetic Variants

Gene:GDF3
Variant:p.E59D

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.E59D
c.177G>C
Surrounding Variants
1 paper
NM_020634.3
p.E59Q
c.175G>C
1 paper
NM_020634.3
p.A60G
c.179C>G
1 paper
NM_020634.3
p.I50_D57insFs
c.148_170dup23
1 paper
NM_020634.3
p.R68*
c.202C>T
1 paper
NM_020634.3
p.Y49F
c.146A>T
1 paper
NM_020634.3
p.C71R
c.211T>C
1 paper
NM_020634.3
p.E75fs
c.223_224fs
1 paper
NM_020634.3
p.E75delFs
c.223delC
2 papers
NM_020634.3
p.V78L
c.232G>C
1 paper
NM_020634.3
p.V78I
c.232G>A
1 paper
NM_020634.3
p.V82delFs
c.244_245delAC
2 papers
NM_020634.3
p.R84C
c.250C>T
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