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

1–12 of 702 variants

16 papers

NM_001364905.1

p.R1683*

c.5047C>T

14 papers

NM_001364905.1

p.M467V

c.1399A>G

13 papers

NM_001364905.1

p.E59*

c.175G>T

10 papers

NM_001364905.1

p.G524S

c.1570G>A

10 papers

NM_001364905.1

p.R655*

c.1963C>T

9 papers

NM_001364905.1

p.T2388delFs

c.7162delT

9 papers

NM_001364905.1

p.I2646S

c.7937T>G

8 papers

NM_001364905.1

p.R182*

c.544C>T

8 papers

NM_001364905.1

p.R1271*

c.3811C>T

8 papers

NM_001364905.1

p.T2388fs

c.7162_7163fs

8 papers

NM_001364905.1

p.L2657R

c.7970T>G

7 papers

NM_001364905.1

p.Q678*

c.2032C>T