Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.V192G

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.V192G
c.575T>G
Surrounding Variants
1 paper
NM_005573.4
p.L194insFs
c.580_581ins40
1 paper
NM_005573.4
p.L194F
c.582G>C
1 paper
NM_005573.4
p.L194F
c.582G>T
1 paper
NM_005573.4
p.E195D
c.585G>C
1 paper
NM_005573.4
p.Q183fs
c.547_548fs
5 papers
NM_005573.4
p.E203K
c.607G>A
6 papers
NM_005573.4
p.E203G
c.608A>G
1 paper
NM_005573.4
p.D204D
c.612C>T
2 papers
NM_005573.4
p.E174*
c.520G>T
1 paper
NM_005573.4
p.Q169*
c.505C>T
1 paper
NM_005573.4
p.D165G
c.494A>G
1 paper
NM_005573.4
p.D165H
c.493G>C
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