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

4 papers

NM_001385012.1

p.N1121delFs

c.3362delA

Surrounding Variants

2 papers

NM_001385012.1

p.K1119*

c.3355A>T

1 paper

NM_001385012.1

p.N1121fs

c.3361_3362fs

3 papers

NM_001385012.1

p.N1121fs

c.3361_3362fs

1 paper

NM_001385012.1

p.K1124*

c.3370A>T

1 paper

NM_001385012.1

p.K1124N

c.3372G>C

1 paper

NM_001385012.1

p.K1124N

c.3372G>T

1 paper

NM_001385012.1

p.P1128L

c.3383C>T

1 paper

NM_001385012.1

p.T1144A

c.3430A>G

1 paper

NM_001385012.1

p.E1091D

c.3273G>C

1 paper

NM_001385012.1

p.E1091D

c.3273G>T

1 paper

NM_001385012.1

p.P1152H

c.3455C>A

1 paper

NM_001385012.1

p.L1081*

c.3242T>A