Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.C230R

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.C230R
c.688T>C
Surrounding Variants
1 paper
NM_001001557.4
p.R234R
c.702G>A
1 paper
NM_001001557.4
p.L240L
c.718C>T
2 papers
NM_001001557.4
p.D216G
c.647A>G
1 paper
NM_001001557.4
p.A245fs
c.733_734fs
1 paper
NM_001001557.4
p.A245insFs
c.733dupG
1 paper
NM_001001557.4
p.E244_A245del2
c.730_734del6
19 papers
NM_001001557.4
p.A249E
c.746C>A
1 paper
NM_001001557.4
p.A210V
c.629C>T
1 paper
NM_001001557.4
p.P209T
c.625C>A
1 paper
NM_001001557.4
p.A207V
c.620C>T
2 papers
NM_001001557.4
p.Q253L
c.758A>T
1 paper
NM_001001557.4
p.P258fs
c.772_773fs
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