Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.G178R

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
1 paper
NM_001001557.4
p.G178R
c.532G>C
Surrounding Variants
1 paper
NM_001001557.4
p.G178R
c.532G>A
1 paper
NM_001001557.4
p.L188L
c.564C>A
1 paper
NM_001001557.4
p.F189L
c.565T>C
1 paper
NM_001001557.4
p.F189L
c.567C>G
1 paper
NM_001001557.4
p.F189L
c.567C>A
1 paper
NM_001001557.4
p.C191delFs
c.571delA
1 paper
NM_001001557.4
p.E159K
c.475G>A
1 paper
NM_001001557.4
p.L197L
c.591G>T
7 papers
NM_001001557.4
p.A199T
c.595G>A
1 paper
NM_001001557.4
p.L155H
c.464T>A
2 papers
NM_001001557.4
p.M154T
c.461T>C
1 paper
NM_001001557.4
p.M154L
c.460A>C
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."