Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.R126*

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.R126*
c.376A>T
Surrounding Variants
1 paper
NM_006444.3
p.N124T
c.371A>C
1 paper
NM_006444.3
p.S133_V134delFs
c.398_402del5
1 paper
NM_006444.3
p.S133fs
c.397_398fs
1 paper
NM_006444.3
p.Q147L
c.440A>T
1 paper
NM_006444.3
p.A168T
c.502G>A
1 paper
NM_006444.3
p.A169A
c.507T>C
1 paper
NM_006444.3
p.E175*
c.523G>T
1 paper
NM_006444.3
p.I179L
c.535A>C
1 paper
NM_006444.3
p.I179L
c.535A>T
1 paper
NM_006444.3
p.E186Q
c.556G>C
1 paper
NM_006444.3
p.K188delFs
c.563delA
1 paper
NM_006444.3
p.K187T
c.560A>C
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