Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.E828*

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.E828*
c.2482G>T
Surrounding Variants
1 paper
NM_006444.3
p.Y836Y
c.2508C>T
1 paper
NM_006444.3
p.K865E
c.2593A>G
1 paper
NM_006444.3
p.E874Q
c.2620G>C
1 paper
NM_006444.3
p.I882V
c.2644A>G
1 paper
NM_006444.3
p.A785V
c.2354C>T
1 paper
NM_006444.3
p.A785T
c.2353G>A
1 paper
NM_006444.3
p.D939G
c.2816A>G
1 paper
NM_006444.3
p.G966S
c.2896G>A
1 paper
NM_006444.3
p.N984S
c.2951A>G
1 paper
NM_006444.3
p.T751delFs
c.2251delA
1 paper
NM_006444.3
p.L729S
c.2186T>C
1 paper
NM_006444.3
p.K716Q
c.2146A>C
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