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

1–12 of 534 variants

11 papers

NM_015175.3

p.E1833K

c.5497G>A

9 papers

NM_015175.3

p.R1839C

c.5515C>T

8 papers

NM_015175.3

p.S294*

c.881C>A

8 papers

NM_015175.3

p.S294*

c.881C>G

8 papers

NM_015175.3

p.L388P

c.1163T>C

8 papers

NM_015175.3

p.E643V

c.1928A>T

8 papers

NM_015175.3

p.P2100L

c.6299C>T

8 papers

NM_015175.3

p.G2553E

c.7658G>A

7 papers

NM_015175.3

p.I86V

c.256A>G

7 papers

NM_015175.3

p.Y729*

c.2187C>A

7 papers

NM_015175.3

p.Y729*

c.2187C>G

7 papers

NM_015175.3

p.R901*

c.2701C>T