Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E793_E795del3

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.E793_E795del3
c.2377_2384del9
Surrounding Variants
1 paper
NM_006306.4
p.N788_E793delFs
c.2364_2379del16
3 papers
NM_006306.4
p.K798fs
c.2392_2393fs
1 paper
NM_006306.4
p.R799fs
c.2395_2396fs
1 paper
NM_006306.4
p.R799W
c.2395C>T
5 papers
NM_006306.4
p.K798insFs
c.2394dupA
3 papers
NM_006306.4
p.K798delFs
c.2394delT
1 paper
NM_006306.4
p.R799L
c.2396G>T
2 papers
NM_006306.4
p.R799fs
c.2395_2396fs
23 papers
NM_006306.4
p.R790Q
c.2369G>A
2 papers
NM_006306.4
p.R790delFs
c.2368delG
1 paper
NM_006306.4
p.R790fs
c.2368_2369fs
6 papers
NM_006306.4
p.R790W
c.2368C>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."