Varaico: Literature-Extracted Genetic Variants

NBEA

246 papers

RefSeq Summary

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunit...

Pfam Domains

Neurobeachinaa 74–223UCSCNeurobeachin alpha solenoid region

Laminin_G_3aa 238–403UCSCConcanavalin A-like lectin/glucanases superfamily

DUF4704aa 467–947UCSCNeurobeachin/BDCP, DUF4704 alpha solenoid region

DUF1088aa 1966–2132UCSCNeurobeachin-like, DUF1088

PH_BEACHaa 2158–2255UCSCPH domain associated with Beige/BEACH

Beachaa 2287–2563UCSCBeige/BEACH domain

Gene Aliases

HGNC Name

neurobeachin

HGNC Alias Symbols

KIAA1544; BCL8B; FLJ10197; LYST2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 406 variants

5 papers

NM_001385012.1

p.R2277*

c.6829C>T

4 papers

NM_001385012.1

p.Y751C

c.2252A>G

4 papers

NM_001385012.1

p.N1121delFs

c.3362delA

4 papers

NM_001385012.1

p.N1495delFs

c.4484delA

4 papers

NM_001385012.1

p.R2213*

c.6637C>T

3 papers

NM_001385012.1

p.R145*

c.433C>T

3 papers

NM_001385012.1

p.T712M

c.2135C>T

3 papers

NM_001385012.1

p.N1121fs

c.3361_3362fs

3 papers

NM_001385012.1

p.T1213A

c.3637A>G

2 papers

NM_001385012.1

p.M1insFs

c.2dupT

2 papers

NM_001385012.1

p.T261I

c.782C>T

2 papers

NM_001385012.1

p.R284H

c.851G>A