Varaico: Literature-Extracted Genetic Variants

Gene:SMC6
Variant:p.A292V

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
Selected Variant
2 papers
NM_001142286.2
p.A292V
c.875C>T
Surrounding Variants
1 paper
NM_001142286.2
p.Q289*
c.865C>T
1 paper
NM_001142286.2
p.Q314E
c.940C>G
1 paper
NM_001142286.2
p.Q259L
c.776A>T
1 paper
NM_001142286.2
p.R243R
c.729G>A
1 paper
NM_001142286.2
p.S336fs
c.1006_1007fs
1 paper
NM_001142286.2
p.A351fs
c.1051_1052fs
1 paper
NM_001142286.2
p.A351delFs
c.1052delG
1 paper
NM_001142286.2
p.R358T
c.1073G>C
1 paper
NM_001142286.2
p.E364_V365Splc
c.1092+2T>A
2 papers
NM_001142286.2
p.E373K
c.1117G>A
3 papers
NM_001142286.2
p.R403W
c.1207C>T
1 paper
NM_001142286.2
p.I410fs
c.1228_1229fs
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