Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E450V

SMC1A

576 papers

RefSeq Summary

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This...

Pfam Domains

SMC_Naa 3–1211UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 512–629UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 1A

HGNC Previous Symbol

SMC1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006306.4
p.E450V
c.1349A>T
Surrounding Variants
2 papers
NM_006306.4
p.S448_E450delFs
c.1342_1348del7
1 paper
NM_006306.4
p.E450E
c.1350A>G
1 paper
NM_006306.4
p.S448fs
c.1342_1343fs
1 paper
NM_006306.4
p.K453R
c.1358A>G
1 paper
NM_006306.4
p.K454Q
c.1360A>C
1 paper
NM_006306.4
p.L455P
c.1364T>C
1 paper
NM_006306.4
p.E458*
c.1372G>T
1 paper
NM_006306.4
p.E458G
c.1373A>G
1 paper
NM_006306.4
p.T460A
c.1378A>G
1 paper
NM_006306.4
p.R468W
c.1402C>T
1 paper
NM_006306.4
p.R468Q
c.1403G>A
2 papers
NM_006306.4
p.R469C
c.1405C>T
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