Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.P569R

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.P569R
c.1706C>G
Surrounding Variants
1 paper
NM_002296.4
p.F564L
c.1692T>G
3 papers
NM_002296.4
p.G563Splc
c.1688-2A>G
1 paper
NM_002296.4
p.M578I
c.1734G>T
1 paper
NM_002296.4
p.M578I
c.1734G>C
1 paper
NM_002296.4
p.M578I
c.1734G>A
1 paper
NM_002296.4
p.V581delFs
c.1741_1742delAC
3 papers
NM_002296.4
p.R583*
c.1747C>T
5 papers
NM_002296.4
p.R583L
c.1748G>T
16 papers
NM_002296.4
p.R583Q
c.1748G>A
3 papers
NM_002296.4
p.R586S
c.1756C>A
1 paper
NM_002296.4
p.R586P
c.1757G>C
12 papers
NM_002296.4
p.R586H
c.1757G>A
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