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.R1456C

c.4366C>T

Surrounding Variants

2 papers

NM_015175.3

p.R1456H

c.4367G>A

3 papers

NM_015175.3

p.T1454M

c.4361C>T

6 papers

NM_015175.3

p.G1457_E1459insFs

c.4371_4375dup5

2 papers

NM_015175.3

p.V1458M

c.4372G>A

2 papers

NM_015175.3

p.E1459fs

c.4375_4376fs

1 paper

NM_015175.3

p.F1473_S1474insT

c.4417_4421ins3

1 paper

NM_015175.3

p.V1475V

c.4425G>C

1 paper

NM_015175.3

p.L1479_G1480insG

c.4435_4439ins3

1 paper

NM_015175.3

p.S1495Splc

c.4485-8C>T

3 papers

NM_015175.3

p.S1495Splc

c.4485-1G>T

4 papers

NM_015175.3

p.L1501del1

c.4501_4502delCTG

3 papers

NM_015175.3

p.A1504_D1507del4

c.4510_4520del12