Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
2 papers
NM_005573.4
p.M1I
c.3G>A
1 paper
NM_005573.4
p.M1I
c.3G>C
1 paper
NM_005573.4
p.M1K
c.2T>A
1 paper
NM_005573.4
p.M1_A4delFs
c.3_12del10
1 paper
NM_005573.4
p.A2A
c.6G>T
1 paper
NM_005573.4
p.T3_G12del10
c.7_35del30
2 papers
NM_005573.4
p.A4V
c.11C>T
1 paper
NM_005573.4
p.A4A
c.12G>C
1 paper
NM_005573.4
p.A4A
c.12G>T
1 paper
NM_005573.4
p.P6insFs
c.16dupC
1 paper
NM_005573.4
p.T5P
c.13A>C
1 paper
NM_005573.4
p.P8Q
c.23C>A
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."