Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.A82delFs

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.A82delFs
c.244_245delGC
Surrounding Variants
2 papers
NM_001001557.4
p.P85P
c.255G>T
1 paper
NM_001001557.4
p.V93L
c.277G>T
1 paper
NM_001001557.4
p.P94R
c.281C>G
1 paper
NM_001001557.4
p.V93_P94delFs
c.278_281del4
1 paper
NM_001001557.4
p.V93_H95del3
c.277_284del9
1 paper
NM_001001557.4
p.S100A
c.298T>G
1 paper
NM_001001557.4
p.S100L
c.299C>T
1 paper
NM_001001557.4
p.G64R
c.190G>C
1 paper
NM_001001557.4
p.Y102*
c.306C>G
1 paper
NM_001001557.4
p.Y102*
c.306C>A
1 paper
NM_001001557.4
p.E109fs
c.325_326fs
4 papers
NM_001001557.4
p.D57H
c.169G>C
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