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

10 papers

NM_001364905.1

p.G524S

c.1570G>A

Surrounding Variants

2 papers

NM_001364905.1

p.C522_K523insT

c.1564_1568ins3

1 paper

NM_001364905.1

p.G524_F525del2

c.1570_1574del6

1 paper

NM_001364905.1

p.L520F

c.1558C>T

1 paper

NM_001364905.1

p.E517*

c.1549G>T

1 paper

NM_001364905.1

p.Q516P

c.1547A>C

2 papers

NM_001364905.1

p.Q516*

c.1546C>T

1 paper

NM_001364905.1

p.S535F

c.1604C>T

1 paper

NM_001364905.1

p.Q559H

c.1677G>C

1 paper

NM_001364905.1

p.N560D

c.1678A>G

1 paper

NM_001364905.1

p.L564delFs

c.1691delA

1 paper

NM_001364905.1

p.I578_A584del7

c.1732_1751del21

1 paper

NM_001364905.1

p.K585_V586Splc

c.1755+54G>A