Varaico: Literature-Extracted Genetic Variants

Gene:SMC1B
Variant:p.E405D

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.E405D
c.1215A>C
Surrounding Variants
2 papers
NM_148674.5
p.E405D
c.1215A>T
1 paper
NM_148674.5
p.L396L
c.1188G>A
1 paper
NM_148674.5
p.L396P
c.1187T>C
1 paper
NM_148674.5
p.I424_K425delFs
c.1271_1274del4
1 paper
NM_148674.5
p.M446Splc
c.1338-5T>C
1 paper
NM_148674.5
p.Q485*
c.1453C>T
1 paper
NM_148674.5
p.R496H
c.1487G>A
1 paper
NM_148674.5
p.S349R
c.1047T>G
1 paper
NM_148674.5
p.S349R
c.1047T>A
1 paper
NM_148674.5
p.S349R
c.1045A>C
1 paper
NM_148674.5
p.E339*
c.1015G>T
1 paper
NM_148674.5
p.S322R
c.966C>G
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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."