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

5 papers

NM_015175.3

p.M432_A433Splc

c.1296+5G>C

Surrounding Variants

1 paper

NM_015175.3

p.M432_A433Splc

c.1296+5G>A

4 papers

NM_015175.3

p.H418delFs

c.1253delA

6 papers

NM_015175.3

p.H418fs

c.1252_1253fs

1 paper

NM_015175.3

p.Q416R

c.1247A>G

1 paper

NM_015175.3

p.H410Y

c.1228C>T

1 paper

NM_015175.3

p.V401E

c.1202T>A

1 paper

NM_015175.3

p.V434_G436delFs

c.1302_1306del5

1 paper

NM_015175.3

p.G436V

c.1307G>T

2 papers

NM_015175.3

p.I446M

c.1338C>G

3 papers

NM_015175.3

p.R447H

c.1340G>A

2 papers

NM_015175.3

p.P451A

c.1351C>G

1 paper

NM_015175.3

p.P451P

c.1353G>A