Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.L456V

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.L456V
c.1366C>G
Surrounding Variants
1 paper
NM_002296.4
p.L456delins
c.1366_1367delinsGC
1 paper
NM_002296.4
p.F454S
c.1361T>C
1 paper
NM_002296.4
p.D460G
c.1379A>G
2 papers
NM_002296.4
p.D460A
c.1379A>C
1 paper
NM_002296.4
p.I467F
c.1399A>T
1 paper
NM_002296.4
p.T444N
c.1331C>A
4 papers
NM_002296.4
p.Y468fs
c.1402_1403fs
3 papers
NM_002296.4
p.Y468delFs
c.1402delA
1 paper
NM_002296.4
p.E439K
c.1315G>A
2 papers
NM_002296.4
p.L489P
c.1466T>C
3 papers
NM_002296.4
p.L495Splc
c.1483+1G>A
3 papers
NM_002296.4
p.L495Splc
c.1484-9A>G
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