Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.A435S

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.A435S
c.1303G>T
Surrounding Variants
1 paper
NM_001001557.4
p.A435T
c.1303G>A
1 paper
NM_001001557.4
p.A435V
c.1304C>T
1 paper
NM_001001557.4
p.I433I
c.1299C>T
2 papers
NM_001001557.4
p.I430V
c.1288A>G
4 papers
NM_001001557.4
p.S429R
c.1287C>G
4 papers
NM_001001557.4
p.S429R
c.1287C>A
4 papers
NM_001001557.4
p.S429R
c.1285A>C
1 paper
NM_001001557.4
p.I428I
c.1284C>T
6 papers
NM_001001557.4
p.Y444N
c.1330T>A
1 paper
NM_001001557.4
p.Y444C
c.1331A>G
7 papers
NM_001001557.4
p.K424R
c.1271A>G
1 paper
NM_001001557.4
p.D446H
c.1336G>C
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