Varaico: Literature-Extracted Genetic Variants

Gene:LMNB2
Variant:p.N210K

LMNB2

155 papers

RefSeq Summary

This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matri...

Pfam Domains

Filamentaa 45–401UCSCIntermediate filament protein
LTDaa 467–579UCSCLamin Tail Domain

Gene Aliases

HGNC Name

lamin B2

HGNC Previous Symbol

LMN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032737.4
p.N210K
c.630C>G
Surrounding Variants
2 papers
NM_032737.4
p.N210K
c.630C>A
1 paper
NM_032737.4
p.L208L
c.622C>T
1 paper
NM_032737.4
p.D207N
c.619G>A
2 papers
NM_032737.4
p.L215P
c.644T>C
1 paper
NM_032737.4
p.L215Q
c.644T>A
1 paper
NM_032737.4
p.T202T
c.606G>T
1 paper
NM_032737.4
p.T202M
c.605C>T
1 paper
NM_032737.4
p.R222R
c.666G>A
1 paper
NM_032737.4
p.L198R
c.593T>G
1 paper
NM_032737.4
p.K223E
c.667A>G
1 paper
NM_032737.4
p.E227K
c.679G>A
1 paper
NM_032737.4
p.V193delFs
c.578_579delCA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."