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.V2582I

c.7744G>A

Surrounding Variants

1 paper

NM_015175.3

p.E2573_D2574Splc

c.7720-6C>T

1 paper

NM_015175.3

p.Q2612Q

c.7836G>A

1 paper

NM_015175.3

p.A2619S

c.7855G>T

1 paper

NM_015175.3

p.V2569G

c.7706T>G

1 paper

NM_001365116.2

p.Q2592_V2593Splc

c.7776+2T>A

1 paper

NM_015175.3

p.L2565R

c.7694T>G

8 papers

NM_015175.3

p.G2553E

c.7658G>A

1 paper

NM_015175.3

p.V2548I

c.7642G>A

1 paper

NM_015175.3

p.V2539A

c.7616T>C

1 paper

NM_015175.3

p.L2633R

c.7898T>G

5 papers

NM_015175.3

p.G2535fs

c.7603_7604fs

4 papers

NM_015175.3

p.G2535delFs

c.7604delG