Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.K268del1

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
16 papers
NM_006306.4
p.K268del1
c.802_803delCTT
Surrounding Variants
1 paper
NM_001281463.1
p.K245R
c.734A>G
1 paper
NM_006306.4
p.G271fs
c.811_812fs
3 papers
NM_006306.4
p.E265del1
c.793_795delCTC
1 paper
NM_006306.4
p.M273V
c.817A>G
1 paper
NM_006306.4
p.K272_M273del2
c.814_818del6
1 paper
NM_006306.4
p.R275W
c.823C>T
1 paper
NM_006306.4
p.E262K
c.784G>A
1 paper
NM_006306.4
p.K282del1
c.844_846delCTT
1 paper
NM_006306.4
p.K254R
c.761A>G
1 paper
NM_006306.4
p.E283del1
c.847_849delCTC
1 paper
NM_006306.4
p.E250*
c.748G>T
1 paper
NM_006306.4
p.I249I
c.747C>T
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