Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q610*

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.Q610*
c.1828C>T
Surrounding Variants
2 papers
NM_006306.4
p.Q610R
c.1829A>G
1 paper
NM_006306.4
p.L609L
c.1825C>T
1 paper
NM_006306.4
p.C613Y
c.1838G>A
1 paper
NM_006306.4
p.Y611_A612del2
c.1831_1835del6
2 papers
NM_006306.4
p.G614D
c.1841G>A
1 paper
NM_006306.4
p.A616T
c.1846G>A
1 paper
NM_006306.4
p.A616V
c.1847C>T
1 paper
NM_006306.4
p.A616D
c.1847C>A
1 paper
NM_006306.4
p.P603S
c.1807C>T
1 paper
NM_006306.4
p.E601G
c.1802A>G
1 paper
NM_006306.4
p.R599H
c.1796G>A
1 paper
NM_006306.4
p.R599C
c.1795C>T
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