Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.I143delFs

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.I143delFs
c.429delA
Surrounding Variants
2 papers
NM_006306.4
p.I143fs
c.427_428fs
1 paper
NM_006306.4
p.A144V
c.431C>T
12 papers
NM_006306.4
p.E141K
c.421G>A
1 paper
NM_006306.4
p.P148S
c.442C>T
1 paper
NM_006306.4
p.A139P
c.415G>C
2 papers
NM_006306.4
p.G138_A139insA
c.412_416ins3
1 paper
NM_006306.4
p.E150fs
c.448_449fs
1 paper
NM_006306.4
p.E150fs
c.448_449fs
1 paper
NM_006306.4
p.E150delFs
c.449delT
1 paper
NM_006306.4
p.E157K
c.469G>A
1 paper
NM_006306.4
p.I158F
c.472A>T
1 paper
NM_006306.4
p.Q166_E167insAGG
c.496_500ins9
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