Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.A501V

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
7 papers
NM_005573.4
p.A501V
c.1502C>T
Surrounding Variants
1 paper
NM_005573.4
p.A500S
c.1498G>T
1 paper
NM_005573.4
p.W515insFs
c.1544dupG
1 paper
NM_005573.4
p.W515*
c.1544G>A
1 paper
NM_005573.4
p.W515*
c.1545G>A
1 paper
NM_005573.4
p.S520S
c.1560G>A
1 paper
NM_005573.4
p.I530T
c.1589T>C
1 paper
NM_005573.4
p.E537_E538Splc
c.1611+5G>C
1 paper
NM_005573.4
p.G467del1
c.1399_1400delGGA
1 paper
NM_005573.4
p.P465L
c.1394C>T
1 paper
NM_005573.4
p.R455R
c.1365C>T
1 paper
NM_005573.4
p.R455H
c.1364G>A
3 papers
NM_005573.4
p.R455P
c.1364G>C
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