Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.K844_E846del3

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.K844_E846del3
c.2530_2537del9
Surrounding Variants
1 paper
NM_006306.4
p.E848*
c.2542G>T
1 paper
NM_006306.4
p.I849V
c.2545A>G
1 paper
NM_006306.4
p.I849fs
c.2545_2546fs
1 paper
NM_006306.4
p.I849delFs
c.2547delT
2 papers
NM_006306.4
p.K851T
c.2552A>C
1 paper
NM_006306.4
p.Q840H
c.2520G>T
1 paper
NM_006306.4
p.K854fs
c.2560_2561fs
1 paper
NM_006306.4
p.Q840H
c.2520G>C
1 paper
NM_006306.4
p.K854delFs
c.2561delT
1 paper
NM_006306.4
p.D833E
c.2499T>G
1 paper
NM_006306.4
p.D833E
c.2499T>A
1 paper
NM_006306.4
p.D833G
c.2498A>G
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