Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.R267R

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.R267R
c.801G>C
Surrounding Variants
1 paper
NM_001001557.4
p.R270L
c.809G>T
1 paper
NM_001001557.4
p.G264D
c.791G>A
1 paper
NM_001001557.4
p.P271T
c.811C>A
1 paper
NM_001001557.4
p.P258fs
c.772_773fs
1 paper
NM_001001557.4
p.P258delFs
c.773delG
2 papers
NM_001001557.4
p.Q253L
c.758A>T
1 paper
NM_001001557.4
p.L278_F281del4
c.832_842del12
1 paper
NM_001001557.4
p.S284P
c.850T>C
1 paper
NM_001001557.4
p.S284S
c.852C>G
19 papers
NM_001001557.4
p.A249E
c.746C>A
1 paper
NM_001001557.4
p.R286P
c.857G>C
1 paper
NM_001001557.4
p.E244_A245del2
c.730_734del6
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