Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R469C

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
2 papers
NM_006306.4
p.R469C
c.1405C>T
Surrounding Variants
2 papers
NM_006306.4
p.R469H
c.1406G>A
1 paper
NM_006306.4
p.R468Q
c.1403G>A
1 paper
NM_006306.4
p.R468W
c.1402C>T
1 paper
NM_006306.4
p.T460A
c.1378A>G
1 paper
NM_006306.4
p.Q479R
c.1436A>G
1 paper
NM_006306.4
p.E458G
c.1373A>G
1 paper
NM_006306.4
p.E458*
c.1372G>T
1 paper
NM_006306.4
p.V480fs
c.1438_1439fs
1 paper
NM_006306.4
p.L455P
c.1364T>C
2 papers
NM_006306.4
p.Q483*
c.1447C>T
1 paper
NM_006306.4
p.Q483R
c.1448A>G
1 paper
NM_006306.4
p.K454Q
c.1360A>C
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