Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R816C

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.R816C
c.2446C>T
Surrounding Variants
9 papers
NM_006306.4
p.R816G
c.2446C>G
1 paper
NM_006306.4
p.R816S
c.2446C>A
3 papers
NM_006306.4
p.R816H
c.2447G>A
3 papers
NM_006306.4
p.I819L
c.2455A>C
1 paper
NM_006306.4
p.E811fs
c.2431_2432fs
7 papers
NM_006306.4
p.F823L
c.2467T>C
7 papers
NM_006306.4
p.F823L
c.2469T>G
7 papers
NM_006306.4
p.F823L
c.2469T>A
5 papers
NM_006306.4
p.L808fs
c.2422_2423fs
1 paper
NM_006306.4
p.R807L
c.2420G>T
19 papers
NM_006306.4
p.R807H
c.2420G>A
1 paper
NM_006306.4
p.N826fs
c.2476_2477fs
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