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.I203fs

c.607_608fs

Surrounding Variants

1 paper

NM_015175.3

p.I203insFs

c.607dupA

1 paper

NM_015175.3

p.R201H

c.602G>A

1 paper

NM_015175.3

p.C207S

c.619T>A

1 paper

NM_015175.3

p.A208T

c.622G>A

1 paper

NM_015175.3

p.L210F

c.628C>T

1 paper

NM_015175.3

p.P195S

c.583C>T

1 paper

NM_015175.3

p.A191T

c.571G>A

1 paper

NM_015175.3

p.N190Y

c.568A>T

1 paper

NM_015175.3

p.V221I

c.661G>A

1 paper

NM_015175.3

p.V233A

c.698T>C

1 paper

NM_015175.3

p.D243H

c.727G>C

1 paper

NM_015175.3

p.D243E

c.729C>A