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.E778Q

c.2332G>C

Surrounding Variants

1 paper

NM_015175.3

p.E778D

c.2334G>T

1 paper

NM_015175.3

p.G779S

c.2335G>A

1 paper

NM_015175.3

p.A786T

c.2356G>A

5 papers

NM_015175.3

p.R792Q

c.2375G>A

1 paper

NM_015175.3

p.L799R

c.2396T>G

1 paper

NM_015175.3

p.L754V

c.2260C>G

4 papers

NM_015175.3

p.A753fs

c.2257_2258fs

3 papers

NM_015175.3

p.A753_L754delFs

c.2257_2260del4

2 papers

NM_015175.3

p.A745T

c.2233G>A

1 paper

NM_015175.3

p.A812delFs

c.2435delC

1 paper

NM_015175.3

p.V743L

c.2227G>C

1 paper

NM_015175.3

p.P741R

c.2222C>G