Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.A135V

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.A135V
c.404C>T
Surrounding Variants
1 paper
NM_001492.6
p.S134S
c.402G>A
1 paper
NM_001492.6
p.S134*
c.401C>A
1 paper
NM_001492.6
p.E137K
c.409G>A
1 paper
NM_001492.6
p.F131S
c.392T>C
1 paper
NM_001492.6
p.V130I
c.388G>A
1 paper
NM_001492.6
p.T128P
c.382A>C
2 papers
NM_001492.6
p.G122delFs
c.364delC
1 paper
NM_001492.6
p.F151Y
c.452T>A
5 papers
NM_001492.6
p.A118V
c.353C>T
1 paper
NM_001492.6
p.A157ins1
c.470_471insGGC
3 papers
NM_001492.6
p.A157delins
c.471delinsGGCA
1 paper
NM_001492.6
p.A156_A157del1
c.468_470delGCC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."