Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q220*

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.Q220*
c.658C>T
Surrounding Variants
1 paper
NM_006306.4
p.A219delFs
c.655delC
1 paper
NM_006306.4
p.A219fs
c.655_656fs
1 paper
NM_001281463.1
p.R196P
c.587G>C
1 paper
NM_006306.4
p.Q222*
c.664C>T
1 paper
NM_006306.4
p.R218W
c.652C>T
1 paper
NM_006306.4
p.L223P
c.668T>C
1 paper
NM_006306.4
p.V216L
c.646G>T
1 paper
NM_006306.4
p.V216L
c.646G>C
1 paper
NM_006306.4
p.L225F
c.673C>T
1 paper
NM_006306.4
p.L228F
c.682C>T
1 paper
NM_001281463.1
p.Y207C
c.620A>G
1 paper
NM_006306.4
p.N231Y
c.691A>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."