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.S716G

c.2146A>G

Surrounding Variants

1 paper

NM_015175.3

p.G702D

c.2105G>A

1 paper

NM_015175.3

p.R688C

c.2062C>T

2 papers

NM_015175.3

p.V683I

c.2047G>A

4 papers

NM_015175.3

p.I682F

c.2044A>T

1 paper

NM_015175.3

p.V680M

c.2038G>A

3 papers

NM_015175.3

p.W677R

c.2029T>A

3 papers

NM_015175.3

p.W677R

c.2029T>C

1 paper

NM_015175.3

p.D674N

c.2020G>A

1 paper

NM_015175.3

p.E717_P718Splc

c.2152-10G>A

1 paper

NM_015175.3

p.E669G

c.2006A>G

3 papers

NM_015175.3

p.F719delFs

c.2156delT

4 papers

NM_015175.3

p.F719fs

c.2155_2156fs