Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q492R

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.Q492R
c.1475A>G
Surrounding Variants
1 paper
NM_006306.4
p.E493*
c.1477G>T
1 paper
NM_006306.4
p.R491L
c.1472G>T
1 paper
NM_006306.4
p.R491H
c.1472G>A
17 papers
NM_006306.4
p.E493A
c.1478A>C
2 papers
NM_006306.4
p.S495G
c.1483A>G
1 paper
NM_006306.4
p.S495N
c.1484G>A
11 papers
NM_006306.4
p.R496C
c.1486C>T
31 papers
NM_006306.4
p.R496H
c.1487G>A
1 paper
NM_006306.4
p.R488H
c.1463G>A
1 paper
NM_006306.4
p.R488C
c.1462C>T
3 papers
NM_006306.4
p.Q497*
c.1489C>T
1 paper
NM_006306.4
p.A487S
c.1459G>T
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