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

2 papers

NM_015175.3

p.A577fs

c.1729_1730fs

Surrounding Variants

1 paper

NM_015175.3

p.A575_R576insFs

c.1725_1728dup4

1 paper

NM_015175.3

p.D582Y

c.1744G>T

1 paper

NM_015175.3

p.A588T

c.1762G>A

1 paper

NM_015175.3

p.R563C

c.1687C>T

1 paper

NM_015175.3

p.P593fs

c.1777_1778fs

1 paper

NM_015175.3

p.G559S

c.1675G>A

1 paper

NM_015175.3

p.G559R

c.1675G>C

1 paper

NM_015175.3

p.A558insFs

c.1672dupG

1 paper

NM_015175.3

p.H557fs

c.1669_1670fs

1 paper

NM_015175.3

p.R597*

c.1789C>T

1 paper

NM_015175.3

p.R556Q

c.1667G>A

2 papers

NM_015175.3

p.W598*

c.1793G>A