Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B
Variant:p.E1100D

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.E1100D
c.3300A>C
Surrounding Variants
1 paper
NM_148674.5
p.E1100D
c.3300A>T
1 paper
NM_148674.5
p.G1126R
c.3376G>C
1 paper
NM_148674.5
p.G1126R
c.3376G>A
1 paper
NM_148674.5
p.A1139A
c.3417T>C
1 paper
NM_148674.5
p.D1078V
c.3233A>T
1 paper
NM_148674.5
p.D1064N
c.3190G>A
1 paper
NM_148674.5
p.E1056K
c.3166G>A
5 papers
NM_148674.5
p.F1055L
c.3165C>G
5 papers
NM_148674.5
p.F1055L
c.3165C>A
5 papers
NM_148674.5
p.F1055L
c.3163T>C
4 papers
NM_148674.5
p.L1050M
c.3148C>A
1 paper
NM_148674.5
p.K1165_V1166Splc
c.3495+111T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."