Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.C419Y

GDF6

132 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

TGFb_propeptideaa 66–257UCSCTGF-beta propeptide
TGF_betaaa 353–454UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 6

HGNC Previous Symbol

SGM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001001557.4
p.C419Y
c.1256G>A
Surrounding Variants
1 paper
NM_001001557.4
p.S418T
c.1253G>C
1 paper
NM_001001557.4
p.P416R
c.1247C>G
1 paper
NM_001001557.4
p.T415T
c.1245C>A
7 papers
NM_001001557.4
p.K424R
c.1271A>G
1 paper
NM_001001557.4
p.P412S
c.1234C>T
1 paper
NM_001001557.4
p.I428I
c.1284C>T
4 papers
NM_001001557.4
p.S429R
c.1285A>C
4 papers
NM_001001557.4
p.S429R
c.1287C>G
4 papers
NM_001001557.4
p.S429R
c.1287C>A
2 papers
NM_001001557.4
p.I430V
c.1288A>G
1 paper
NM_001001557.4
p.L406fs
c.1216_1217fs
2 papers
NM_001001557.4
p.T405M
c.1214C>T
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."