Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.A691E

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.A691E
c.2072C>A
Surrounding Variants
1 paper
NM_006306.4
p.A691T
c.2071G>A
1 paper
NM_006306.4
p.K692fs
c.2074_2075fs
1 paper
NM_006306.4
p.R693W
c.2077C>T
11 papers
NM_006306.4
p.R693G
c.2077C>G
1 paper
NM_006306.4
p.K692delFs
c.2076delT
10 papers
NM_006306.4
p.R693Q
c.2078G>A
17 papers
NM_006306.4
p.M689V
c.2065A>G
1 paper
NM_006306.4
p.K694E
c.2080A>G
1 paper
NM_006306.4
p.K686_E687Splc
c.2059-1G>C
1 paper
NM_006306.4
p.E697_L698ins0
c.2090_2092dupAGC
3 papers
NM_006306.4
p.R699C
c.2095C>T
1 paper
NM_006306.4
p.R699L
c.2096G>T
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