Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.Y295*

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.Y295*
c.885C>A
Surrounding Variants
1 paper
NM_001492.6
p.Y295*
c.885C>G
1 paper
NM_001492.6
p.F291_Y295del5
c.871_884del15
1 paper
NM_001492.6
p.F291L
c.873C>G
1 paper
NM_001492.6
p.F291L
c.873C>A
1 paper
NM_001492.6
p.F291L
c.871T>C
1 paper
NM_001492.6
p.V279_R289del11
c.835_866del33
6 papers
NM_001492.6
p.P303insFs
c.909dupC
2 papers
NM_001492.6
p.V304fs
c.910_911fs
1 paper
NM_001492.6
p.V304fs
c.910_911fs
1 paper
NM_001492.6
p.W284*
c.852G>A
1 paper
NM_001492.6
p.W284*
c.851G>A
3 papers
NM_001492.6
p.S309P
c.925T>C
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