Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.S154N

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
8 papers
NM_002296.4
p.S154N
c.461G>A
Surrounding Variants
1 paper
NM_002296.4
p.Q157*
c.469C>T
1 paper
NM_002296.4
p.S159C
c.475A>T
2 papers
NM_002296.4
p.S167fs
c.499_500fs
4 papers
NM_002296.4
p.S167T
c.500G>C
1 paper
NM_002296.4
p.S167_L168delFs
c.501_504del4
2 papers
NM_002296.4
p.K176*
c.526A>T
1 paper
NM_002296.4
p.Y187*
c.561C>G
1 paper
NM_002296.4
p.Y187*
c.561C>A
1 paper
NM_002296.4
p.G210V
c.629G>T
1 paper
NM_002296.4
p.N148D
c.442A>G
1 paper
NM_002296.4
p.P145P
c.435T>A
1 paper
NM_002296.4
p.A144A
c.432A>T
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