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.A1226A

c.3678G>A

Surrounding Variants

1 paper

NM_001385012.1

p.D1224N

c.3670G>A

1 paper

NM_001385012.1

p.G1231A

c.3692G>C

3 papers

NM_001385012.1

p.T1213A

c.3637A>G

1 paper

NM_001385012.1

p.E1243Q

c.3727G>C

1 paper

NM_001385012.1

p.T1197S

c.3590C>G

1 paper

NM_001385012.1

p.T1197S

c.3589A>T

1 paper

NM_001385012.1

p.E1272D

c.3816A>C

1 paper

NM_001385012.1

p.E1272D

c.3816A>T

1 paper

NM_001385012.1

p.R1278*

c.3832C>T

1 paper

NM_001385012.1

p.T1174_V1176del3

c.3520_3527del9

1 paper

NM_001385012.1

p.E1161G

c.3482A>G

1 paper

NM_001385012.1

p.P1152H

c.3455C>A