Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.P91delFs

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
1 paper
NM_002296.4
p.P91delFs
c.272delG
Surrounding Variants
1 paper
NM_002296.4
p.P91fs
c.271_272fs
2 papers
NM_002296.4
p.R89L
c.266G>T
1 paper
NM_002296.4
p.R89Q
c.266G>A
2 papers
NM_002296.4
p.R89*
c.265C>T
1 paper
NM_002296.4
p.G88R
c.262G>C
2 papers
NM_002296.4
p.P87P
c.261T>C
1 paper
NM_002296.4
p.S86A
c.256T>G
1 paper
NM_002296.4
p.R85*
c.253C>T
1 paper
NM_002296.4
p.R76Q
c.227G>A
5 papers
NM_002296.4
p.R76*
c.226C>T
1 paper
NM_002296.4
p.E108K
c.322G>A
1 paper
NM_002296.4
p.R74T
c.221G>C
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