Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B
Variant:p.R114H

SMC1B

78 papers

RefSeq Summary

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008].

Pfam Domains

SMC_Naa 3–1207UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 512–629UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 1B

HGNC Previous Symbol

SMC1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_148674.5
p.R114H
c.341G>A
Surrounding Variants
1 paper
NM_148674.5
p.L111R
c.332T>G
1 paper
NM_148674.5
p.E120D
c.360G>T
1 paper
NM_148674.5
p.E120D
c.360G>C
1 paper
NM_148674.5
p.V140I
c.418G>A
1 paper
NM_148674.5
p.E157*
c.469G>T
1 paper
NM_148674.5
p.K177R
c.530A>G
1 paper
NM_148674.5
p.R196H
c.587G>A
1 paper
NM_148674.5
p.E202Q
c.604G>C
1 paper
NM_148674.5
p.G67R
c.199G>C
1 paper
NM_148674.5
p.G67R
c.199G>A
1 paper
NM_148674.5
p.K59E
c.175A>G
1 paper
NM_148674.5
p.R208G
c.622C>G
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