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.G181V

c.542G>T

Surrounding Variants

8 papers

NM_001364905.1

p.R182*

c.544C>T

2 papers

NM_001364905.1

p.R182Q

c.545G>A

1 paper

NM_001364905.1

p.K180Q

c.538A>C

1 paper

NM_001364905.1

p.W183*

c.548G>A

2 papers

NM_001364905.1

p.G178delFs

c.534delT

1 paper

NM_001364905.1

p.K175delFs

c.524_525delTT

5 papers

NM_001364905.1

p.K175*

c.523A>T

2 papers

NM_001364905.1

p.S174_K175insFs

c.522_523insT

1 paper

NM_001364905.1

p.F173C

c.518T>G

1 paper

NM_001364905.1

p.R167L

c.500G>T

1 paper

NM_001364905.1

p.T165_V166delins

c.495_496delinsAT

1 paper

NM_001364905.1

p.T165A

c.493A>G