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.S1687F

c.5060C>T

Surrounding Variants

1 paper

NM_015175.3

p.T1670M

c.5009C>T

1 paper

NM_015175.3

p.L1667M

c.4999C>A

2 papers

NM_015175.3

p.A1656_E1659del0

c.4967_4975del9

2 papers

NM_015175.3

p.D1643delFs

c.4928_4929delAT

3 papers

NM_015175.3

p.D1643fs

c.4927_4928fs

1 paper

NM_015175.3

p.S1637S

c.4911C>T

1 paper

NM_015175.3

p.V1632A

c.4895T>C

4 papers

NM_015175.3

p.R1631fs

c.4891_4892fs

3 papers

NM_015175.3

p.G1630delFs

c.4890delG

1 paper

NM_015175.3

p.T1721I

c.5162C>T

3 papers

NM_015175.3

p.E1726*

c.5176G>T

1 paper

NM_015175.3

p.D1746V

c.5237A>T