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.A492_G493insFs

c.1476_1479dup4

Surrounding Variants

1 paper

NM_015175.3

p.Q491_A492insFs

c.1473_1474insT

1 paper

NM_015175.3

p.G493_L494insFs

c.1479_1480insG

2 papers

NM_015175.3

p.L494fs

c.1480_1481fs

1 paper

NM_015175.3

p.L498P

c.1493T>C

3 papers

NM_015175.3

p.L502_S503delFs

c.1504_1507del4

1 paper

NM_015175.3

p.L502F

c.1504C>T

5 papers

NM_015175.3

p.L502fs

c.1504_1505fs

1 paper

NM_015175.3

p.Q473R

c.1418A>G

1 paper

NM_015175.3

p.F470fs

c.1408_1409fs

6 papers

NM_015175.3

p.R511G

c.1531C>G

1 paper

NM_015175.3

p.L469_F470delFs

c.1407_1408delCT

1 paper

NM_015175.3

p.E466insFs

c.1397_1398insA