Varaico: Literature-Extracted Genetic Variants

Gene:SMC6

SMC6

75 papers

Pfam Domains

SMC_Naa 47–1071UCSCRecF/RecN/SMC N terminal domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 6

HGNC Previous Symbol

SMC6L1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
3 papers
NM_001142286.2
p.R403W
c.1207C>T
3 papers
NM_001142286.2
p.R464G
c.1390A>G
3 papers
NM_001142286.2
p.A691T
c.2071G>A
2 papers
NM_001142286.2
p.I51F
c.151A>T
2 papers
NM_001142286.2
p.A292V
c.875C>T
2 papers
NM_001142286.2
p.E373K
c.1117G>A
2 papers
NM_001142286.2
p.I410fs
c.1228_1229fs
1 paper
NM_001142286.2
p.K13R
c.38A>G
1 paper
NM_001142286.2
p.A15T
c.43G>A
1 paper
NM_001142286.2
p.D25insFs
c.74_75insT
1 paper
NM_001142286.2
p.H52Q
c.156C>G
1 paper
NM_001142286.2
p.H52Q
c.156C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."