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.P1668insFs

c.5003dupC

Surrounding Variants

1 paper

NM_001364905.1

p.S1669fs

c.5005_5006fs

1 paper

NM_001364905.1

p.N1677S

c.5030A>G

16 papers

NM_001364905.1

p.R1683*

c.5047C>T

1 paper

NM_001364905.1

p.P1652L

c.4955C>T

1 paper

NM_001364905.1

p.N1687fs

c.5059_5060fs

1 paper

NM_001364905.1

p.N1649K

c.4947T>G

1 paper

NM_001364905.1

p.N1649K

c.4947T>A

1 paper

NM_001364905.1

p.N1687_P1689delFs

c.5060_5067del8

1 paper

NM_001364905.1

p.L1644V

c.4930C>G

1 paper

NM_001364905.1

p.T1643A

c.4927A>G

1 paper

NM_001364905.1

p.T1643P

c.4927A>C

2 papers

NM_001364905.1

p.V1695L

c.5083G>T