Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.L585P

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.L585P
c.1754T>C
Surrounding Variants
37 papers
NM_006306.4
p.R586W
c.1756C>T
1 paper
NM_006306.4
p.R586G
c.1756C>G
15 papers
NM_006306.4
p.R586Q
c.1757G>A
1 paper
NM_006306.4
p.E587*
c.1759G>T
1 paper
NM_006306.4
p.E583K
c.1747G>A
1 paper
NM_006306.4
p.D582H
c.1744G>C
1 paper
NM_006306.4
p.G590G
c.1770G>C
1 paper
NM_006306.4
p.L593P
c.1778T>C
1 paper
NM_006306.4
p.R599C
c.1795C>T
1 paper
NM_006306.4
p.D582_I598ins5
c.1746_1793dup48
1 paper
NM_006306.4
p.R599H
c.1796G>A
1 paper
NM_006306.4
p.E601G
c.1802A>G
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