Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q704*

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.Q704*
c.2110C>T
Surrounding Variants
1 paper
NM_006306.4
p.H706D
c.2116C>G
1 paper
NM_006306.4
p.V701G
c.2102T>G
2 papers
NM_006306.4
p.G707V
c.2120G>T
1 paper
NM_006306.4
p.G707A
c.2120G>C
1 paper
NM_006306.4
p.G707E
c.2120G>A
1 paper
NM_006306.4
p.Q700R
c.2099A>G
1 paper
NM_006306.4
p.R699L
c.2096G>T
3 papers
NM_006306.4
p.R699C
c.2095C>T
1 paper
NM_006306.4
p.E697_L698ins0
c.2090_2092dupAGC
26 papers
NM_006306.4
p.R711W
c.2131C>T
6 papers
NM_006306.4
p.R711G
c.2131C>G
3 papers
NM_006306.4
p.R711L
c.2132G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."