Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R171*

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
8 papers
NM_006306.4
p.R171*
c.511C>T
Surrounding Variants
1 paper
NM_006306.4
p.Q166_E167insAGG
c.496_500ins9
2 papers
NM_006306.4
p.E179*
c.535G>T
2 papers
NM_006306.4
p.E179K
c.535G>A
2 papers
NM_006306.4
p.Q183*
c.547C>T
3 papers
NM_006306.4
p.Q183Q
c.549G>A
1 paper
NM_006306.4
p.I158F
c.472A>T
1 paper
NM_006306.4
p.E157K
c.469G>A
1 paper
NM_006306.4
p.Y186D
c.556T>G
1 paper
NM_006306.4
p.R188C
c.562C>T
1 paper
NM_006306.4
p.K173_H187del15
c.517_560del45
1 paper
NM_006306.4
p.R188H
c.563G>A
17 papers
NM_006306.4
p.K190T
c.569A>C
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