Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R188C

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.R188C
c.562C>T
Surrounding Variants
1 paper
NM_006306.4
p.K173_H187del15
c.517_560del45
1 paper
NM_006306.4
p.R188H
c.563G>A
1 paper
NM_006306.4
p.Y186D
c.556T>G
17 papers
NM_006306.4
p.K190T
c.569A>C
3 papers
NM_006306.4
p.Q183Q
c.549G>A
1 paper
NM_006306.4
p.A193P
c.577G>C
2 papers
NM_006306.4
p.Q183*
c.547C>T
1 paper
NM_006306.4
p.A193V
c.578C>T
1 paper
NM_006306.4
p.A194T
c.580G>A
4 papers
NM_006306.4
p.R196C
c.586C>T
1 paper
NM_006306.4
p.R196P
c.587G>C
18 papers
NM_006306.4
p.R196H
c.587G>A
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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."