Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.N788fs

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.N788fs
c.2362_2363fs
Surrounding Variants
5 papers
NM_006306.4
p.N788delFs
c.2364delG
8 papers
NM_006306.4
p.N788fs
c.2362_2363fs
1 paper
NM_006306.4
p.R790fs
c.2368_2369fs
6 papers
NM_006306.4
p.R790W
c.2368C>T
23 papers
NM_006306.4
p.R790Q
c.2369G>A
2 papers
NM_006306.4
p.R790delFs
c.2368delG
1 paper
NM_006306.4
p.G785V
c.2354G>T
1 paper
NM_006306.4
p.G785D
c.2354G>A
10 papers
NM_006306.4
p.I784T
c.2351T>C
1 paper
NM_006306.4
p.N788_E793delFs
c.2364_2379del16
1 paper
NM_006306.4
p.R782L
c.2345G>T
1 paper
NM_006306.4
p.R782W
c.2344C>T
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