Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.C227*

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
14 papers
NM_001492.6
p.C227*
c.681C>A
Surrounding Variants
1 paper
NM_001492.6
p.R229C
c.685C>T
1 paper
NM_001492.6
p.R222insFs
c.664dupC
1 paper
NM_001492.6
p.R222Q
c.665G>A
1 paper
NM_001492.6
p.L240fs
c.718_719fs
1 paper
NM_001492.6
p.L240insFs
c.718dupC
1 paper
NM_001492.6
p.W209*
c.627G>A
1 paper
NM_001492.6
p.W209*
c.626G>A
1 paper
NM_001492.6
p.R205H
c.614G>A
2 papers
NM_001492.6
p.W203*
c.609G>A
2 papers
NM_001492.6
p.W203*
c.608G>A
1 paper
NM_001492.6
p.A255A
c.765C>T
1 paper
NM_001492.6
p.L259fs
c.775_776fs
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