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.R2172H

c.6515G>A

Surrounding Variants

1 paper

NM_015175.3

p.E2174K

c.6520G>A

1 paper

NM_015175.3

p.Y2160*

c.6480C>A

1 paper

NM_015175.3

p.Y2160*

c.6480C>G

2 papers

NM_015175.3

p.H2159Q

c.6477C>A

2 papers

NM_015175.3

p.H2159Q

c.6477C>G

1 paper

NM_015175.3

p.Y2156*

c.6468T>A

1 paper

NM_015175.3

p.Y2156*

c.6468T>G

1 paper

NM_015175.3

p.F2154L

c.6462C>A

1 paper

NM_015175.3

p.F2154L

c.6462C>G

1 paper

NM_015175.3

p.F2154L

c.6460T>C

3 papers

NM_015175.3

p.F2144fs

c.6430_6431fs

2 papers

NM_015175.3

p.F2144delFs

c.6432delT