Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.G392R

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
4 papers
NM_002296.4
p.G392R
c.1174G>A
Surrounding Variants
4 papers
NM_002296.4
p.G392R
c.1174G>C
5 papers
NM_002296.4
p.P391delFs
c.1173delG
2 papers
NM_002296.4
p.G392fs
c.1174_1175fs
3 papers
NM_002296.4
p.L393*
c.1178T>A
1 paper
NM_002296.4
p.R390H
c.1169G>A
1 paper
NM_002296.4
p.Y385N
c.1153T>A
1 paper
NM_002296.4
p.R377P
c.1130G>C
1 paper
NM_002296.4
p.R377Q
c.1130G>A
8 papers
NM_002296.4
p.R377*
c.1129C>T
10 papers
NM_002296.4
p.R372C
c.1114C>T
1 paper
NM_002296.4
p.G371D
c.1112G>A
1 paper
NM_002296.4
p.F368C
c.1103T>G
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