Varaico: Literature-Extracted Genetic Variants

Gene:SMC2

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
1–12 of 97 variants
8 papers
NM_006444.3
p.F1135S
c.3404T>C
2 papers
NM_006444.3
p.L543S
c.1628T>C
2 papers
NM_006444.3
p.T651A
c.1951A>G
2 papers
NM_006444.3
p.K1071R
c.3212A>G
2 papers
NM_006444.3
p.L1074L
c.3222G>A
1 paper
NM_006444.3
p.K4N
c.12G>C
1 paper
NM_006444.3
p.G22V
c.65G>T
1 paper
NM_006444.3
p.D24H
c.70G>C
1 paper
NM_006444.3
p.D24D
c.72C>T
1 paper
NM_006444.3
p.K38T
c.113A>C
1 paper
NM_006444.3
p.K38I
c.113A>T
1 paper
NM_006444.3
p.S55C
c.164C>G
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