Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R626H

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.R626H
c.1877G>A
Surrounding Variants
1 paper
NM_006306.4
p.R626C
c.1876C>T
1 paper
NM_006306.4
p.R627insFs
c.1879dupC
1 paper
NM_006306.4
p.R627H
c.1880G>A
1 paper
NM_006306.4
p.F630I
c.1888T>A
1 paper
NM_006306.4
p.H633Q
c.1899C>G
1 paper
NM_006306.4
p.H633Q
c.1899C>A
5 papers
NM_006306.4
p.Q634*
c.1900C>T
3 papers
NM_006306.4
p.R635C
c.1903C>T
1 paper
NM_006306.4
p.R635H
c.1904G>A
1 paper
NM_006306.4
p.A616V
c.1847C>T
1 paper
NM_006306.4
p.A616D
c.1847C>A
1 paper
NM_006306.4
p.A616T
c.1846G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."