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.R153W

c.457C>T

Surrounding Variants

1 paper

NM_015175.3

p.R153Q

c.458G>A

1 paper

NM_015175.3

p.R156C

c.466C>T

3 papers

NM_015175.3

p.R156H

c.467G>A

1 paper

NM_015175.3

p.G158fs

c.472_473fs

1 paper

NM_015175.3

p.G158E

c.473G>A

2 papers

NM_015175.3

p.E143K

c.427G>A

1 paper

NM_015175.3

p.E143del1

c.427_428delGAG

1 paper

NM_015175.3

p.A138D

c.413C>A

1 paper

NM_015175.3

p.A135V

c.404C>T

1 paper

NM_015175.3

p.A135S

c.403G>T

1 paper

NM_015175.3

p.E132D

c.396G>C

1 paper

NM_015175.3

p.L131L

c.393G>A