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.Y1835fs

c.5503_5504fs

Surrounding Variants

3 papers

NM_015175.3

p.Y1835*

c.5505T>A

3 papers

NM_015175.3

p.Y1835*

c.5505T>G

1 paper

NM_015175.3

p.T1834_S1836delFs

c.5500_5507del8

11 papers

NM_015175.3

p.E1833K

c.5497G>A

9 papers

NM_015175.3

p.R1839C

c.5515C>T

1 paper

NM_015175.3

p.P1823R

c.5468C>G

6 papers

NM_015175.3

p.R1858*

c.5572C>T

1 paper

NM_015175.3

p.E1863G

c.5588A>G

1 paper

NM_015175.3

p.L1866delFs

c.5597delT

1 paper

NM_015175.3

p.T1867I

c.5600C>T

1 paper

NM_015175.3

p.P1813Q

c.5438C>A

1 paper

NM_015175.3

p.L1810_P1813delFs

c.5430_5437del8