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

2 papers

NM_001364905.1

p.T2388fs

c.7162_7163fs

Surrounding Variants

9 papers

NM_001364905.1

p.T2388delFs

c.7162delT

8 papers

NM_001364905.1

p.T2388fs

c.7162_7163fs

1 paper

NM_001364905.1

p.P2383L

c.7148C>T

1 paper

NM_001364905.1

p.N2364S

c.7091A>G

1 paper

NM_006726.4

p.N2373S

c.7118A>G

1 paper

NM_001364905.1

p.P2357_E2358insA

c.7069_7073ins3