Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.Q679*

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.Q679*
c.2035C>T
Surrounding Variants
2 papers
NM_006444.3
p.T651A
c.1951A>G
1 paper
NM_006444.3
p.K643fs
c.1927_1928fs
1 paper
NM_006444.3
p.K638fs
c.1912_1913fs
1 paper
NM_006444.3
p.K638_V639insFs
c.1914_1915insA
1 paper
NM_006444.3
p.A636insFs
c.1907_1908insA
1 paper
NM_006444.3
p.E621G
c.1862A>G
1 paper
NM_006444.3
p.E621Q
c.1861G>C
1 paper
NM_006444.3
p.A619S
c.1855G>T
1 paper
NM_006444.3
p.A606D
c.1817C>A
1 paper
NM_006444.3
p.K716Q
c.2146A>C
1 paper
NM_006444.3
p.L729S
c.2186T>C
1 paper
NM_006444.3
p.T751delFs
c.2251delA
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