Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.A255A

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.A255A
c.765C>T
Surrounding Variants
1 paper
NM_001492.6
p.L259fs
c.775_776fs
3 papers
NM_001492.6
p.G262S
c.784G>A
4 papers
NM_001492.6
p.C267Y
c.800G>A
1 paper
NM_001492.6
p.L259_C267delFs
c.776_801del26
1 paper
NM_001492.6
p.L240insFs
c.718dupC
1 paper
NM_001492.6
p.L240fs
c.718_719fs
1 paper
NM_001492.6
p.V274G
c.821T>G
1 paper
NM_001492.6
p.R277R
c.831C>T
1 paper
NM_001492.6
p.V279A
c.836T>C
1 paper
NM_001492.6
p.W281R
c.841T>C
1 paper
NM_001492.6
p.W281R
c.841T>A
1 paper
NM_001492.6
p.R229C
c.685C>T
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