Varaico: Literature-Extracted Genetic Variants

Gene:SMC6
Variant:p.R464G

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
3 papers
NM_001142286.2
p.R464G
c.1390A>G
Surrounding Variants
1 paper
NM_001142286.2
p.K456M
c.1367A>T
1 paper
NM_001142286.2
p.H499D
c.1495C>G
1 paper
NM_001142286.2
p.K447T
c.1340A>C
1 paper
NM_001142286.2
p.E432fs
c.1294_1295fs
1 paper
NM_001142286.2
p.I431M
c.1293C>G
2 papers
NM_001142286.2
p.I410fs
c.1228_1229fs
1 paper
NM_001142286.2
p.I410fs
c.1228_1229fs
3 papers
NM_001142286.2
p.R403W
c.1207C>T
2 papers
NM_001142286.2
p.E373K
c.1117G>A
1 paper
NM_001142286.2
p.R559Q
c.1676G>A
1 paper
NM_001142286.2
p.E364_V365Splc
c.1092+2T>A
1 paper
NM_001142286.2
p.R358T
c.1073G>C
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