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.S1084F

c.3251C>T

Surrounding Variants

1 paper

NM_001364905.1

p.S1083N

c.3248G>A

1 paper

NM_001364905.1

p.E1088Q

c.3262G>C

1 paper

NM_001364905.1

p.D1089G

c.3266A>G

4 papers

NM_001364905.1

p.A1090G

c.3269C>G

2 papers

NM_001364905.1

p.E1077*

c.3229G>T

2 papers

NM_001364905.1

p.F1096fs

c.3286_3287fs

4 papers

NM_001364905.1

p.F1096delFs

c.3286_3287delAA

1 paper

NM_001364905.1

p.D1098E

c.3294T>G

1 paper

NM_001364905.1

p.D1098E

c.3294T>A

1 paper

NM_001364905.1

p.I1066delFs

c.3196delT

1 paper

NM_001364905.1

p.S1062F

c.3185C>T

1 paper

NM_001364905.1

p.D1107N

c.3319G>A