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.R274C

c.820C>T

Surrounding Variants

1 paper

NM_015175.3

p.A275V

c.824C>T

1 paper

NM_015175.3

p.L276L

c.828G>A

1 paper

NM_015175.3

p.R269R

c.807T>C

1 paper

NM_015175.3

p.V283I

c.847G>A

1 paper

NM_015175.3

p.W288*

c.863G>A

1 paper

NM_015175.3

p.P289R

c.866C>G

1 paper

NM_015175.3

p.A290G

c.869C>G

2 papers

NM_015175.3

p.G256R

c.766G>C

1 paper

NM_015175.3

p.S294insFs

c.881_882insC

8 papers

NM_015175.3

p.S294*

c.881C>A

8 papers

NM_015175.3

p.S294*

c.881C>G

1 paper

NM_015175.3

p.D243E

c.729C>A