Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.G17insFs

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.G17insFs
c.50dupG
Surrounding Variants
1 paper
NM_005573.4
p.G12D
c.35G>A
2 papers
NM_005573.4
p.G12R
c.34G>C
1 paper
NM_005573.4
p.G12C
c.34G>T
1 paper
NM_005573.4
p.R10insFs
c.28_29insA
1 paper
NM_005573.4
p.P8Q
c.23C>A
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.A4A
c.12G>C
1 paper
NM_005573.4
p.A4A
c.12G>T
2 papers
NM_005573.4
p.A4V
c.11C>T
2 papers
NM_005573.4
p.R29W
c.85C>T
1 paper
NM_005573.4
p.A2A
c.6G>T
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