Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.A157delins

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
3 papers
NM_001492.6
p.A157delins
c.471delinsGGCA
Surrounding Variants
1 paper
NM_001492.6
p.A156_A157del1
c.468_470delGCC
1 paper
NM_001492.6
p.A157ins1
c.470_471insGGC
1 paper
NM_001492.6
p.A158del1
c.472_473delGGC
5 papers
NM_001492.6
p.G162D
c.485G>A
1 paper
NM_001492.6
p.F151Y
c.452T>A
1 paper
NM_001492.6
p.A168V
c.503C>T
1 paper
NM_001492.6
p.G171insFs
c.512_513insGC
1 paper
NM_001492.6
p.E137K
c.409G>A
1 paper
NM_001492.6
p.G179R
c.535G>C
1 paper
NM_001492.6
p.G179R
c.535G>A
1 paper
NM_001492.6
p.A135V
c.404C>T
1 paper
NM_001492.6
p.S134S
c.402G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."