Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.S144S

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
2 papers
NM_005573.4
p.S144S
c.432G>A
Surrounding Variants
3 papers
NM_005573.4
p.Y138Y
c.414T>C
2 papers
NM_005573.4
p.A152G
c.455C>G
1 paper
NM_005573.4
p.A152V
c.455C>T
1 paper
NM_005573.4
p.K134R
c.401A>G
1 paper
NM_005573.4
p.K134Q
c.400A>C
2 papers
NM_005573.4
p.D155E
c.465C>A
2 papers
NM_005573.4
p.D155E
c.465C>G
1 paper
NM_005573.4
p.K157Q
c.469A>C
1 paper
NM_005573.4
p.S158fs
c.472_473fs
1 paper
NM_005573.4
p.S158N
c.473G>A
1 paper
NM_005573.4
p.G130D
c.389G>A
1 paper
NM_005573.4
p.D165H
c.493G>C
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."