Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.S34del1

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.S34del1
c.100_101delGGA
Surrounding Variants
1 paper
NM_001001557.4
p.S31_S32del1
c.93_95delGAG
1 paper
NM_001001557.4
p.G38R
c.112G>C
1 paper
NM_001001557.4
p.G38S
c.112G>A
1 paper
NM_001001557.4
p.G38D
c.113G>A
1 paper
NM_001001557.4
p.S31S
c.93C>T
1 paper
NM_001001557.4
p.G38delFs
c.112delC
1 paper
NM_001001557.4
p.S31F
c.92C>T
1 paper
NM_001001557.4
p.S30F
c.89C>T
6 papers
NM_001001557.4
p.G42V
c.125G>T
1 paper
NM_001001557.4
p.S27_I28insTAT
c.79_83ins9
1 paper
NM_001001557.4
p.A26insFs
c.76dupG
2 papers
NM_001001557.4
p.Q25*
c.73C>T
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