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.R2394Q

c.7181G>A

Surrounding Variants

1 paper

NM_015175.3

p.S2398_T2401insFs

c.7192_7202dup11

1 paper

NM_015175.3

p.Q2402fs

c.7204_7205fs

2 papers

NM_015175.3

p.G2403V

c.7208G>T

1 paper

NM_015175.3

p.D2382V

c.7145A>T

4 papers

NM_015175.3

p.L2408_V2409Splc

c.7225-1G>C

1 paper

NM_015175.3

p.T2410fs

c.7228_7229fs

1 paper

NM_015175.3

p.T2410_V2411delFs

c.7230_7231delTG

1 paper

NM_015175.3

p.T2419I

c.7256C>T

2 papers

NM_015175.3

p.R2427C

c.7279C>T

1 paper

NM_015175.3

p.N2428fs

c.7282_7283fs

1 paper

NM_015175.3

p.P2453L

c.7358C>T

1 paper

NM_015175.3

p.Q2463*

c.7387C>T