Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.N239S

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.N239S
c.716A>G
Surrounding Variants
1 paper
NM_006306.4
p.K245R
c.734A>G
1 paper
NM_006306.4
p.N231_E232del2
c.691_695del6
4 papers
NM_006306.4
p.E232*
c.694G>T
1 paper
NM_006306.4
p.K247M
c.740A>T
1 paper
NM_006306.4
p.N231Y
c.691A>T
1 paper
NM_001281463.1
p.Y207C
c.620A>G
1 paper
NM_006306.4
p.I249I
c.747C>T
1 paper
NM_006306.4
p.E250*
c.748G>T
1 paper
NM_006306.4
p.L228F
c.682C>T
1 paper
NM_006306.4
p.L225F
c.673C>T
1 paper
NM_006306.4
p.K254R
c.761A>G
1 paper
NM_006306.4
p.L223P
c.668T>C
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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."