Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B
Variant:p.Q1177L

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
3 papers
NM_148674.5
p.Q1177L
c.3530A>T
Surrounding Variants
1 paper
NM_148674.5
p.Q1179*
c.3535C>T
1 paper
NM_148674.5
p.S1184F
c.3551C>T
1 paper
NM_148674.5
p.C1206G
c.3616T>G
1 paper
NM_148674.5
p.M1207R
c.3620T>G
1 paper
NM_148674.5
p.S1209G
c.3625A>G
3 papers
NM_148674.5
p.S1228T
c.3683G>C
1 paper
NM_148674.5
p.G1232R
c.3694G>C
1 paper
NM_148674.5
p.G1232R
c.3694G>A
1 paper
NM_148674.5
p.R1235C
c.3703C>T
1 paper
NM_148674.5
p.K1165_V1166Splc
c.3495+111T>G
1 paper
NM_148674.5
p.A1139A
c.3417T>C
1 paper
NM_148674.5
p.G1126R
c.3376G>C
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