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

4 papers

NM_015175.3

p.Q1767_E1768Splc

c.5301+1G>A

Surrounding Variants

6 papers

NM_015175.3

p.Q1767*

c.5299C>T

2 papers

NM_015175.3

p.A1760T

c.5278G>A

1 paper

NM_015175.3

p.R1759C

c.5275C>T

1 paper

NM_015175.3

p.Q1753*

c.5257C>T

1 paper

NM_015175.3

p.D1746V

c.5237A>T

3 papers

NM_015175.3

p.E1726*

c.5176G>T

1 paper

NM_015175.3

p.T1721I

c.5162C>T

1 paper

NM_015175.3

p.A1774S

c.5320G>T

2 papers

NM_015175.3

p.T1786S

c.5356A>T

1 paper

NM_015175.3

p.H1802P

c.5405A>C

5 papers

NM_015175.3

p.A1805insFs

c.5413dupG

1 paper

NM_015175.3

p.A1805fs

c.5413_5414fs