Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.E292delFs

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.E292delFs
c.874delG
Surrounding Variants
1 paper
NM_005573.4
p.E292insFs
c.874_875insA
1 paper
NM_005573.4
p.R297C
c.889C>T
3 papers
NM_005573.4
p.S284S
c.852T>C
1 paper
NM_005573.4
p.S302fs
c.904_905fs
1 paper
NM_005573.4
p.L310L
c.930A>G
1 paper
NM_005573.4
p.E313_S314Splc
c.939+1G>A
1 paper
NM_005573.4
p.Q252R
c.755A>G
2 papers
NM_005573.4
p.R234C
c.700C>T
1 paper
NM_005573.4
p.S232P
c.694T>C
1 paper
NM_005573.4
p.R226C
c.676C>T
1 paper
NM_005573.4
p.E215K
c.643G>A
1 paper
NM_005573.4
p.D204D
c.612C>T
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