Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B

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
1–12 of 93 variants
5 papers
NM_148674.5
p.F1055L
c.3163T>C
5 papers
NM_148674.5
p.F1055L
c.3165C>G
5 papers
NM_148674.5
p.F1055L
c.3165C>A
4 papers
NM_148674.5
p.I221T
c.662T>C
4 papers
NM_148674.5
p.L1050M
c.3148C>A
3 papers
NM_148674.5
p.R693H
c.2078G>A
3 papers
NM_148674.5
p.Q1177L
c.3530A>T
3 papers
NM_148674.5
p.S1228T
c.3683G>C
2 papers
NM_148674.5
p.R114H
c.341G>A
2 papers
NM_148674.5
p.E288G
c.863A>G
2 papers
NM_148674.5
p.E405D
c.1215A>T
2 papers
NM_148674.5
p.E405D
c.1215A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."