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.L2502delFs

c.7506delT

Surrounding Variants

1 paper

NM_015175.3

p.H2501Y

c.7501C>T

1 paper

NM_015175.3

p.S2496N

c.7487G>A

1 paper

NM_015175.3

p.R2491C

c.7471C>T

1 paper

NM_015175.3

p.P2490H

c.7469C>A

1 paper

NM_015175.3

p.T2487fs

c.7459_7460fs

1 paper

NM_015175.3

p.T2487fs

c.7459_7460fs

3 papers

NM_015175.3

p.W2480*

c.7440G>A

3 papers

NM_015175.3

p.W2480*

c.7439G>A

1 paper

NM_015175.3

p.D2470N

c.7408G>A

1 paper

NM_015175.3

p.Q2463*

c.7387C>T

2 papers

NM_015175.3

p.D2503fs

c.7507_7508fs

1 paper

NM_015175.3

p.V2505A

c.7514T>C