Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B
Variant:p.L737L

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
1 paper
NM_148674.5
p.L737L
c.2209T>C
Surrounding Variants
1 paper
NM_148674.5
p.C748Y
c.2243G>A
1 paper
NM_148674.5
p.R758Q
c.2273G>A
1 paper
NM_148674.5
p.R711L
c.2132G>T
3 papers
NM_148674.5
p.R693H
c.2078G>A
1 paper
NM_148674.5
p.V772A
c.2315T>C
1 paper
NM_148674.5
p.K812R
c.2435A>G
1 paper
NM_148674.5
p.T815insFs
c.2443dupA
1 paper
NM_148674.5
p.T815fs
c.2443_2444fs
1 paper
NM_148674.5
p.N833T
c.2498A>C
1 paper
NM_148674.5
p.K853R
c.2558A>G
1 paper
NM_148674.5
p.K874R
c.2621A>G
1 paper
NM_148674.5
p.R895W
c.2683C>T
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