Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.N984S

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.N984S
c.2951A>G
Surrounding Variants
1 paper
NM_006444.3
p.G966S
c.2896G>A
1 paper
NM_006444.3
p.D939G
c.2816A>G
1 paper
NM_006444.3
p.N999S
c.2996A>G
1 paper
NM_006444.3
p.L1030Q
c.3089T>A
1 paper
NM_006444.3
p.I882V
c.2644A>G
1 paper
NM_006444.3
p.E874Q
c.2620G>C
1 paper
NM_006444.3
p.K865E
c.2593A>G
1 paper
NM_006444.3
p.Y836Y
c.2508C>T
1 paper
NM_006444.3
p.E828*
c.2482G>T
1 paper
NM_006444.3
p.V1037L
c.3109G>C
1 paper
NM_006444.3
p.V1037L
c.3109G>T
1 paper
NM_006444.3
p.D1066N
c.3196G>A
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