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.E56_V57insFs

c.168_169insT

Surrounding Variants

1 paper

NM_001364905.1

p.G58A

c.173G>C

1 paper

NM_001364905.1

p.G58G

c.174A>T

13 papers

NM_001364905.1

p.E59*

c.175G>T

1 paper

NM_001364905.1

p.E59delFs

c.177delT

1 paper

NM_001364905.1

p.A49insFs

c.146_147insA

1 paper

NM_001364905.1

p.I65T

c.194T>C

1 paper

NM_001364905.1

p.M46_K47del2

c.136_140del6

1 paper

NM_001364905.1

p.E67*

c.199G>T

1 paper

NM_001364905.1

p.R45*

c.133A>T

1 paper

NM_001364905.1

p.T68_V69insFs

c.204_205insA

1 paper

NM_001364905.1

p.G43insFs

c.129dupC

1 paper

NM_001364905.1

p.F70L

c.208T>C