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.R659Q

c.1976G>A

Surrounding Variants

1 paper

NM_015175.3

p.C657R

c.1969T>C

1 paper

NM_015175.3

p.P668T

c.2002C>A

6 papers

NM_015175.3

p.G650R

c.1948G>A

6 papers

NM_015175.3

p.G650R

c.1948G>C

1 paper

NM_015175.3

p.E669G

c.2006A>G

1 paper

NM_015175.3

p.A649T

c.1945G>A

1 paper

NM_015175.3

p.F645L

c.1935C>A

1 paper

NM_015175.3

p.F645L

c.1935C>G

1 paper

NM_015175.3

p.F645L

c.1933T>C

1 paper

NM_015175.3

p.D674N

c.2020G>A

3 papers

NM_015175.3

p.F646del1

c.1936_1937delTTC

1 paper

NM_015175.3

p.A644S

c.1930G>T