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

4 papers

NM_001364905.1

p.Q1010*

c.3028C>T

Surrounding Variants

1 paper

NM_001364905.1

p.I1007V

c.3019A>G

1 paper

NM_001364905.1

p.S1000insFs

c.2999_3000dupCA

1 paper

NM_001364905.1

p.S1000delFs

c.2999delG

1 paper

NM_001364905.1

p.S1000fs

c.2998_2999fs

6 papers

NM_001364905.1

p.A1021T

c.3061G>A

5 papers

NM_001364905.1

p.S993*

c.2978C>G

3 papers

NM_001364905.1

p.S993*

c.2978C>A

1 paper

NM_001364905.1

p.N988fs

c.2962_2963fs

1 paper

NM_001364905.1

p.N988delFs

c.2963delT

1 paper

NM_001364905.1

p.N988fs

c.2962_2963fs

1 paper

NM_001364905.1

p.G1032D

c.3095G>A

1 paper

NM_001364905.1

p.H984insFs

c.2951_2952insA