Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.A436V

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
Selected Variant
1 paper
NM_005573.4
p.A436V
c.1307C>T
Surrounding Variants
3 papers
NM_005573.4
p.A436T
c.1306G>A
1 paper
NM_005573.4
p.A438V
c.1313C>T
1 paper
NM_005573.4
p.V442A
c.1325T>C
1 paper
NM_005573.4
p.E445K
c.1333G>A
3 papers
NM_005573.4
p.D448G
c.1343A>G
1 paper
NM_005573.4
p.R455H
c.1364G>A
3 papers
NM_005573.4
p.R455P
c.1364G>C
1 paper
NM_005573.4
p.R455L
c.1364G>T
1 paper
NM_005573.4
p.R455R
c.1365C>T
1 paper
NM_005573.4
p.R416W
c.1246C>T
1 paper
NM_005573.4
p.S405A
c.1213T>G
1 paper
NM_005573.4
p.S404A
c.1210T>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."