Varaico: Literature-Extracted Genetic Variants

NBEAL2

249 papers

RefSeq Summary

The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene ar...

Pfam Domains

Neurobeachinaa 287–505UCSCNeurobeachin alpha solenoid region

DUF4704aa 839–1138UCSCNeurobeachin/BDCP, DUF4704 alpha solenoid region

DUF4800aa 1553–1827UCSCDomain of unknown function (DUF4800)

PH_BEACHaa 1892–1977UCSCPH domain associated with Beige/BEACH

Beachaa 2032–2311UCSCBeige/BEACH domain

NBCH_WD40aa 2366–2690UCSCNeurobeachin beta propeller domain

Gene Aliases

HGNC Name

neurobeachin like 2

HGNC Alias Symbol

KIAA0540

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015175.3

p.A456V

c.1367C>T

Surrounding Variants

2 papers

NM_015175.3

p.L459delFs

c.1376delT

1 paper

NM_015175.3

p.L459fs

c.1375_1376fs

1 paper

NM_015175.3

p.L459R

c.1376T>G

1 paper

NM_015175.3

p.P451P

c.1353G>A

2 papers

NM_015175.3

p.P451A

c.1351C>G

3 papers

NM_015175.3

p.R447H

c.1340G>A

2 papers

NM_015175.3

p.I446M

c.1338C>G

1 paper

NM_015175.3

p.E466insFs

c.1397_1398insA

1 paper

NM_015175.3

p.L469_F470delFs

c.1407_1408delCT

1 paper

NM_015175.3

p.F470fs

c.1408_1409fs

1 paper

NM_015175.3

p.Q473R

c.1418A>G

1 paper

NM_015175.3

p.G436V

c.1307G>T