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.V385I

c.1153G>A

Surrounding Variants

1 paper

NM_015175.3

p.V387M

c.1159G>A

1 paper

NM_015175.3

p.H383delFs

c.1147delC

8 papers

NM_015175.3

p.L388P

c.1163T>C

1 paper

NM_015175.3

p.I380N

c.1139T>A

1 paper

NM_015175.3

p.A379P

c.1135G>C

1 paper

NM_015175.3

p.S395F

c.1184C>T

1 paper

NM_015175.3

p.S397P

c.1189T>C

1 paper

NM_015175.3

p.A398delFs

c.1192delG

1 paper

NM_015175.3

p.A398fs

c.1192_1193fs

1 paper

NM_015175.3

p.K399E

c.1195A>G

1 paper

NM_015175.3

p.K399_E400Splc

c.1197+1G>A

1 paper

NM_015175.3

p.V401E

c.1202T>A