Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.R64C

GDF1

94 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 266–371UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001492.6
p.R64C
c.190C>T
Surrounding Variants
3 papers
NM_001492.6
p.R68H
c.203G>A
1 paper
NM_001492.6
p.P59T
c.175C>A
1 paper
NM_001492.6
p.P53delFs
c.159delG
1 paper
NM_001492.6
p.P53P
c.159C>T
1 paper
NM_001492.6
p.P53fs
c.157_158fs
1 paper
NM_001492.6
p.P53S
c.157C>T
1 paper
NM_001492.6
p.A52D
c.155C>A
1 paper
NM_001492.6
p.R79Q
c.236G>A
1 paper
NM_001492.6
p.G84E
c.251G>A
1 paper
NM_001492.6
p.A42T
c.124G>A
1 paper
NM_001492.6
p.Q88*
c.262C>T
1 paper
NM_001492.6
p.G84_H91del8
c.250_272del24
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