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.F2241L

c.6723C>A

Surrounding Variants

1 paper

NM_001385012.1

p.F2241L

c.6723C>G

1 paper

NM_001385012.1

p.F2241L

c.6721T>C

1 paper

NM_001385012.1

p.V2247fs

c.6739_6740fs

1 paper

NM_001385012.1

p.G2264D

c.6791G>A

1 paper

NM_001385012.1

p.Q2223E

c.6667C>G

1 paper

NM_001385012.1

p.R2219H

c.6656G>A

1 paper

NM_001385012.1

p.R2219C

c.6655C>T

1 paper

NM_001385012.1

p.V2215I

c.6643G>A

4 papers

NM_001385012.1

p.R2213*

c.6637C>T

5 papers

NM_001385012.1

p.R2277*

c.6829C>T

1 paper

NM_001385012.1

p.Q2278*

c.6832C>T

1 paper

NM_001385012.1

p.W2289*

c.6866G>A