Varaico: Literature-Extracted Genetic Variants

LRBA

433 papers

RefSeq Summary

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein ass...

Pfam Domains

Neurobeachinaa 52–197UCSCNeurobeachin alpha solenoid region

Laminin_G_3aa 211–377UCSCConcanavalin A-like lectin/glucanases superfamily

DUF4704aa 441–921UCSCNeurobeachin/BDCP, DUF4704 alpha solenoid region

DUF1088aa 1880–2047UCSCNeurobeachin-like, DUF1088

PH_BEACHaa 2073–2170UCSCPH domain associated with Beige/BEACH

Beachaa 2202–2478UCSCBeige/BEACH domain

Gene Aliases

HGNC Name

LPS responsive beige-like anchor protein

HGNC Previous Symbol

CDC4L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001364905.1

p.L159L

c.477G>A

Surrounding Variants

1 paper

NM_001364905.1

p.L159fs

c.475_476fs

1 paper

NM_001364905.1

p.L159fs

c.475_476fs

1 paper

NM_001364905.1

p.S161N

c.482G>A

1 paper

NM_001364905.1

p.G157A

c.470G>C

1 paper

NM_001364905.1

p.L159_N163Fs

c.475_489delinsAFs

1 paper

NM_001364905.1

p.M155T

c.464T>C

2 papers

NM_001364905.1

p.L164insFs

c.491dupT

1 paper

NM_001364905.1

p.L164fs

c.490_491fs

1 paper

NM_001364905.1

p.T165A

c.493A>G

1 paper

NM_001364905.1

p.T165_V166delins

c.495_496delinsAT

1 paper

NM_001364905.1

p.V153I

c.457G>A

1 paper

NM_001364905.1

p.L151insFs

c.453dupT