Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.K1063fs

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.K1063fs
c.3187_3188fs
Surrounding Variants
1 paper
NM_006306.4
p.I1062delFs
c.3186delG
1 paper
NM_006306.4
p.I1062M
c.3186C>G
4 papers
NM_006306.4
p.E1060K
c.3178G>A
2 papers
NM_006306.4
p.R1066C
c.3196C>T
3 papers
NM_006306.4
p.R1066H
c.3197G>A
1 paper
NM_001281463.1
p.A1036T
c.3106G>A
2 papers
NM_006306.4
p.A1055insFs
c.3165dupC
1 paper
NM_006306.4
p.N1071S
c.3212A>G
1 paper
NM_006306.4
p.E1075*
c.3223G>T
1 paper
NM_006306.4
p.F1074insFs
c.3222dupT
2 papers
NM_006306.4
p.R1051*
c.3151C>T
14 papers
NM_006306.4
p.R1049Q
c.3146G>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."