Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.D831_Q832delFs

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.D831_Q832delFs
c.2493_2496del4
Surrounding Variants
1 paper
NM_006306.4
p.D833Y
c.2497G>T
6 papers
NM_006306.4
p.Q832del1
c.2494_2495delTTG
1 paper
NM_006306.4
p.D833G
c.2498A>G
4 papers
NM_006306.4
p.D831_Q832del1
c.2493_2495delTGG
1 paper
NM_006306.4
p.D833E
c.2499T>G
1 paper
NM_006306.4
p.D833E
c.2499T>A
5 papers
NM_006306.4
p.D831E
c.2493C>G
5 papers
NM_006306.4
p.D831E
c.2493C>A
1 paper
NM_006306.4
p.D831N
c.2491G>A
3 papers
NM_006306.4
p.Q827*
c.2479C>T
1 paper
NM_006306.4
p.N826K
c.2478C>G
1 paper
NM_006306.4
p.N826K
c.2478C>A
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