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.R2651P

c.7952G>C

Surrounding Variants

2 papers

NM_001364905.1

p.S2648*

c.7943C>G

NM_006726.4

p.S2659*

c.7976C>G

2 papers

NM_001364905.1

p.S2648*

c.7943C>A

NM_006726.4

p.S2659*

c.7976C>A

12 papers

NM_001364905.1

p.I2646S

c.7937T>G

NM_006726.4

p.I2657S

c.7970T>G

3 papers

NM_001364905.1

p.I2646L

c.7936A>C

8 papers

NM_001364905.1

p.L2657R

c.7970T>G

1 paper

NM_006726.4

p.W2669*

c.8006G>A

1 paper

NM_006726.4

p.W2669*

c.8007G>A

1 paper

NM_001364905.1

p.G2641R

c.7921G>A

1 paper

NM_001364905.1

p.G2662A

c.7985G>C

1 paper

NM_001364905.1

p.E2637Q

c.7909G>C

1 paper

NM_001364905.1

p.R2635H

c.7904G>A

1 paper

NM_001364905.1

p.T2631fs

c.7891_7892fs