Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1

LMNB1

280 papers

RefSeq Summary

This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alt...

Pfam Domains

Filamentaa 31–387UCSCIntermediate filament protein
LTDaa 435–545UCSCLamin Tail Domain

Gene Aliases

HGNC Name

lamin B1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
7 papers
NM_005573.4
p.A501V
c.1502C>T
6 papers
NM_005573.4
p.E203G
c.608A>G
5 papers
NM_005573.4
p.K33E
c.97A>G
5 papers
NM_005573.4
p.R90P
c.269G>C
5 papers
NM_005573.4
p.E203K
c.607G>A
4 papers
NM_005573.4
p.R42W
c.124C>T
3 papers
NM_005573.4
p.Y138Y
c.414T>C
3 papers
NM_005573.4
p.S284S
c.852T>C
3 papers
NM_005573.4
p.A436T
c.1306G>A
3 papers
NM_005573.4
p.D448G
c.1343A>G
3 papers
NM_005573.4
p.R455P
c.1364G>C
2 papers
NM_005573.4
p.M1I
c.3G>A
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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."