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

7 papers

NM_001364905.1

p.E946_I947delFs

c.2836_2839del4

Surrounding Variants

7 papers

NM_001364905.1

p.E946*

c.2836G>T

1 paper

NM_001364905.1

p.E945fs

c.2833_2834fs

1 paper

NM_001364905.1

p.D944_E945del1

c.2832_2834delTCA

1 paper

NM_001364905.1

p.V943A

c.2828T>C

1 paper

NM_001364905.1

p.C950delFs

c.2850delA

1 paper

NM_001364905.1

p.S952L

c.2855C>T

1 paper

NM_001364905.1

p.Q940fs

c.2818_2819fs

1 paper

NM_001364905.1

p.Q940insFs

c.2818dupC

1 paper

NM_001364905.1

p.Q940*

c.2818C>T

1 paper

NM_001364905.1

p.S959C

c.2876C>G

1 paper

NM_001364905.1

p.I965_V967delins

c.2893_2900delinsGCCAG

1 paper

NM_001364905.1

p.I965_V967Fs

c.2893_2900delinsGCCAGATATATATATATATATATATATAFs