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

1 paper

NM_015175.3

p.C2526S

c.7576T>A

Surrounding Variants

1 paper

NM_015175.3

p.C2526S

c.7577G>C

1 paper

NM_015175.3

p.R2522W

c.7564C>T

1 paper

NM_015175.3

p.R2530Q

c.7589G>A

1 paper

NM_015175.3

p.Y2516C

c.7547A>G

1 paper

NM_015175.3

p.V2505A

c.7514T>C

2 papers

NM_015175.3

p.D2503fs

c.7507_7508fs

4 papers

NM_015175.3

p.G2535delFs

c.7604delG

5 papers

NM_015175.3

p.G2535fs

c.7603_7604fs

1 paper

NM_015175.3

p.L2502delFs

c.7506delT

1 paper

NM_015175.3

p.H2501Y

c.7501C>T

1 paper

NM_015175.3

p.V2539A

c.7616T>C

1 paper

NM_015175.3

p.S2496N

c.7487G>A