Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Y84H

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.Y84H
c.250T>C
Surrounding Variants
1 paper
NM_006306.4
p.V80F
c.238G>T
1 paper
NM_006306.4
p.F79delFs
c.236delA
1 paper
NM_006306.4
p.F79S
c.236T>C
1 paper
NM_006306.4
p.F79V
c.235T>G
1 paper
NM_006306.4
p.R77_A78delFs
c.231_232delCC
1 paper
NM_006306.4
p.R77Q
c.230G>A
1 paper
NM_006306.4
p.N76N
c.228C>T
1 paper
NM_006306.4
p.N76K
c.228C>A
2 papers
NM_006306.4
p.D91G
c.272A>G
2 papers
NM_006306.4
p.R92G
c.274C>G
1 paper
NM_006306.4
p.D91delFs
c.272_273delGT
1 paper
NM_006306.4
p.R92H
c.275G>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."