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.T1251A

c.3751A>G

Surrounding Variants

1 paper

NM_001364905.1

p.R1255T

c.3764G>C

1 paper

NM_001364905.1

p.A1242V

c.3725C>T

3 papers

NM_001364905.1

p.A1260P

c.3778G>C

1 paper

NM_001364905.1

p.A1235S

c.3703G>T

4 papers

NM_001364905.1

p.S1233F

c.3698C>T

1 paper

NM_001364905.1

p.H1270P

c.3809A>C

8 papers

NM_001364905.1

p.R1271*

c.3811C>T

2 papers

NM_001364905.1

p.E1221insFs

c.3662dupA

1 paper

NM_001364905.1

p.T1219_R1220del2

c.3655_3659del6

2 papers

NM_001364905.1

p.T1216_N1217delFs

c.3647_3650del4

1 paper

NM_001364905.1

p.N1217fs

c.3649_3650fs

3 papers

NM_001364905.1

p.N1217fs

c.3649_3650fs