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.G20S

c.58G>A

Surrounding Variants

1 paper

NM_001364905.1

p.G20R

c.58G>C

1 paper

NM_001364905.1

p.D16_G19delFs

c.47_57del11

1 paper

NM_001364905.1

p.G18insFs

c.53dupG

1 paper

NM_001364905.1

p.G20G

c.60T>A

1 paper

NM_001364905.1

p.G21R

c.61G>C

1 paper

NM_001364905.1

p.G21R

c.61G>A

1 paper

NM_001364905.1

p.G21E

c.62G>A

3 papers

NM_001364905.1

p.G18R

c.52G>C

3 papers

NM_001364905.1

p.G18R

c.52G>A

1 paper

NM_001364905.1

p.G22V

c.65G>T

1 paper

NM_001364905.1

p.D17G

c.50A>G

1 paper

NM_001364905.1

p.D16delFs

c.46_47delTC