Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.R512W

LBR

135 papers

RefSeq Summary

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate in...

Pfam Domains

LBR_tudoraa 1–55UCSCLamin-B receptor of TUDOR domain
ERG4_ERG24aa 183–615UCSCErgosterol biosynthesis ERG4/ERG24 family

Gene Aliases

HGNC Name

lamin B receptor

HGNC Alias Symbols

DHCR14B; TDRD18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002296.4
p.R512W
c.1534C>T
Surrounding Variants
7 papers
NM_002296.4
p.R512Q
c.1535G>A
1 paper
NM_002296.4
p.A510T
c.1528G>A
1 paper
NM_002296.4
p.R502L
c.1505G>T
5 papers
NM_002296.4
p.R502G
c.1504C>G
4 papers
NM_002296.4
p.Y498delFs
c.1492delA
3 papers
NM_002296.4
p.L495Splc
c.1484-9A>G
1 paper
NM_002296.4
p.H522R
c.1565A>G
1 paper
NM_002296.4
p.T528I
c.1583C>T
1 paper
NM_002296.4
p.T530M
c.1589C>T
3 papers
NM_002296.4
p.N533_L535delins
c.1599_1605delinsCTAGAAG
1 paper
NM_002296.4
p.F542L
c.1624T>C
14 papers
NM_002296.4
p.N547D
c.1639A>G
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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."