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.E676D

c.2028A>C

Surrounding Variants

1 paper

NM_001364905.1

p.E676D

c.2028A>T

7 papers

NM_001364905.1

p.Q678*

c.2032C>T

1 paper

NM_001364905.1

p.L681R

c.2042T>G

1 paper

NM_001364905.1

p.G671E

c.2012G>A

1 paper

NM_001364905.1

p.D669G

c.2006A>G

2 papers

NM_001364905.1

p.L685insFs

c.2055dupG

1 paper

NM_001364905.1

p.V666A

c.1997T>C

1 paper

NM_001364905.1

p.L665L

c.1995A>G

1 paper

NM_001364905.1

p.F661F

c.1983C>T

10 papers

NM_001364905.1

p.R655*

c.1963C>T

3 papers

NM_001364905.1

p.R645*

c.1933C>T

1 paper

NM_001364905.1

p.R645fs

c.1933_1934fs