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

2 papers

NM_001364905.1

p.P1136L

c.3407C>T

Surrounding Variants

1 paper

NM_001364905.1

p.S1135C

c.3404C>G

1 paper

NM_001364905.1

p.A1138T

c.3412G>A

1 paper

NM_001364905.1

p.N1132_S1133delFs

c.3396_3397delTG

2 papers

NM_001364905.1

p.N1132fs

c.3394_3395fs

1 paper

NM_001364905.1

p.G1142S

c.3424G>A

1 paper

NM_001364905.1

p.A1123fs

c.3367_3368fs

3 papers

NM_001364905.1

p.E1122_A1123insFs

c.3366_3367insA

1 paper

NM_001364905.1

p.D1109Y

c.3325G>T

1 paper

NM_001364905.1

p.D1107N

c.3319G>A

1 paper

NM_001364905.1

p.T1167A

c.3499A>G

1 paper

NM_001364905.1

p.D1098E

c.3294T>G

1 paper

NM_001364905.1

p.D1098E

c.3294T>A