Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.L543S

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
2 papers
NM_006444.3
p.L543S
c.1628T>C
Surrounding Variants
1 paper
NM_006444.3
p.E547D
c.1641A>C
1 paper
NM_006444.3
p.E547D
c.1641A>T
1 paper
NM_006444.3
p.R548*
c.1642C>T
1 paper
NM_006444.3
p.L525H
c.1574T>A
1 paper
NM_006444.3
p.E514K
c.1540G>A
1 paper
NM_006444.3
p.P513A
c.1537C>G
1 paper
NM_006444.3
p.A509G
c.1526C>G
1 paper
NM_006444.3
p.P504S
c.1510C>T
1 paper
NM_006444.3
p.R502T
c.1505G>C
1 paper
NM_006444.3
p.Y496*
c.1488T>A
1 paper
NM_006444.3
p.Y496*
c.1488T>G
1 paper
NM_006444.3
p.T495I
c.1484C>T
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