Varaico: Literature-Extracted Genetic Variants

Gene:GDF6
Variant:p.R392C

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.R392C
c.1174C>T
Surrounding Variants
1 paper
NM_001001557.4
p.V386G
c.1157T>G
1 paper
NM_001001557.4
p.E384D
c.1152G>T
1 paper
NM_001001557.4
p.E384D
c.1152G>C
3 papers
NM_001001557.4
p.N399K
c.1197C>G
3 papers
NM_001001557.4
p.N399K
c.1197C>A
2 papers
NM_001001557.4
p.T405M
c.1214C>T
1 paper
NM_001001557.4
p.L406fs
c.1216_1217fs
1 paper
NM_001001557.4
p.A374T
c.1120G>A
1 paper
NM_001001557.4
p.P412S
c.1234C>T
1 paper
NM_001001557.4
p.W371*
c.1112G>A
1 paper
NM_001001557.4
p.T415T
c.1245C>A
1 paper
NM_001001557.4
p.P416R
c.1247C>G
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