Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.G72C

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.G72C
c.214G>T
Surrounding Variants
2 papers
NM_005573.4
p.G72S
c.214G>A
2 papers
NM_005573.4
p.R71R
c.213C>T
1 paper
NM_005573.4
p.A80V
c.239C>T
1 paper
NM_005573.4
p.L81L
c.243C>A
1 paper
NM_005573.4
p.Q61H
c.183G>C
1 paper
NM_005573.4
p.Q61H
c.183G>T
1 paper
NM_005573.4
p.Y82*
c.246C>A
1 paper
NM_005573.4
p.A59A
c.177G>T
1 paper
NM_005573.4
p.A87A
c.261C>A
1 paper
NM_005573.4
p.D88A
c.263A>C
5 papers
NM_005573.4
p.R90P
c.269G>C
1 paper
NM_005573.4
p.V50M
c.148G>A
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