Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.G22V

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.G22V
c.65G>T
Surrounding Variants
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.K4N
c.12G>C
1 paper
NM_006444.3
p.S55C
c.164C>G
1 paper
NM_006444.3
p.S78Y
c.233C>A
1 paper
NM_006444.3
p.E100A
c.299A>C
1 paper
NM_006444.3
p.N124T
c.371A>C
1 paper
NM_006444.3
p.R126*
c.376A>T
1 paper
NM_006444.3
p.S133_V134delFs
c.398_402del5
1 paper
NM_006444.3
p.S133fs
c.397_398fs
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