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

Selected Variant

1 paper

NM_001385012.1

p.Q222E

c.664C>G

Surrounding Variants

1 paper

NM_001385012.1

p.R203delFs

c.609delA

1 paper

NM_001385012.1

p.F199C

c.596T>G

1 paper

NM_001385012.1

p.K193*

c.577A>T

1 paper

NM_001385012.1

p.A186S

c.556G>T

1 paper

NM_001385012.1

p.V184L

c.550G>C

1 paper

NM_001385012.1

p.G183E

c.548G>A

1 paper

NM_001385012.1

p.D180V

c.539A>T

1 paper

NM_001385012.1

p.V179I

c.535G>A

1 paper

NM_001385012.1

p.W251_P252del2

c.751_755del6

1 paper

NM_001385012.1

p.F257_T258insTCA

c.769_773ins9

2 papers

NM_001385012.1

p.T261I

c.782C>T

1 paper

NM_001385012.1

p.P278S

c.832C>T