Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R96C

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.R96C
c.286C>T
Surrounding Variants
2 papers
NM_006306.4
p.R96S
c.286C>A
2 papers
NM_006306.4
p.R96P
c.287G>C
15 papers
NM_006306.4
p.R96H
c.287G>A
1 paper
NM_006306.4
p.F94delFs
c.282delA
1 paper
NM_006306.4
p.I98S
c.293T>G
1 paper
NM_006306.4
p.R92H
c.275G>A
1 paper
NM_006306.4
p.G100_G101insAGG
c.298_302ins9
1 paper
NM_006306.4
p.G100R
c.298G>C
2 papers
NM_006306.4
p.R92G
c.274C>G
1 paper
NM_006306.4
p.D91delFs
c.272_273delGT
3 papers
NM_006306.4
p.G100Splc
c.298+2T>C
2 papers
NM_006306.4
p.D91G
c.272A>G
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