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

2 papers

NM_015175.3

p.K883_D884Splc

c.2650-1G>A

Surrounding Variants

1 paper

NM_015175.3

p.N887K

c.2661C>A

1 paper

NM_015175.3

p.V889I

c.2665G>A

7 papers

NM_015175.3

p.R901*

c.2701C>T

1 paper

NM_015175.3

p.Q905*

c.2713C>T

2 papers

NM_015175.3

p.G912insFs

c.2735dupG

2 papers

NM_015175.3

p.P913fs

c.2737_2738fs

1 paper

NM_015175.3

p.H917insFs

c.2751dupT

1 paper

NM_015175.3

p.G927A

c.2780G>C

1 paper

NM_015175.3

p.Q931E

c.2791C>G

2 papers

NM_015175.3

p.E942Splc

c.2824+1G>T

1 paper

NM_015175.3

p.E942Splc

c.2824+23T>A

1 paper

NM_015175.3

p.R876K

c.2627G>A