Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.Q264R

SMC2

102 papers

Pfam Domains

SMC_Naa 2–682UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 519–640UCSCSMC proteins Flexible Hinge Domain
SMC_Naa 715–1167UCSCRecF/RecN/SMC N terminal domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 2

HGNC Previous Symbol

SMC2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006444.3
p.Q264R
c.791A>G
Surrounding Variants
1 paper
NM_006444.3
p.K262M
c.785A>T
1 paper
NM_006444.3
p.S249L
c.746C>T
1 paper
NM_006444.3
p.A236S
c.706G>T
1 paper
NM_006444.3
p.L233F
c.699A>C
1 paper
NM_006444.3
p.L233F
c.699A>T
1 paper
NM_006444.3
p.L233V
c.697T>G
1 paper
NM_006444.3
p.R232H
c.695G>A
1 paper
NM_006444.3
p.I227V
c.679A>G
1 paper
NM_006444.3
p.E213G
c.638A>G
1 paper
NM_006444.3
p.N310H
c.928A>C
1 paper
NM_006444.3
p.A316T
c.946G>A
1 paper
NM_006444.3
p.E335fs
c.1003_1004fs
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