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.S1502G

c.4504A>G

Surrounding Variants

1 paper

NM_001385012.1

p.S1498C

c.4493C>G

1 paper

NM_001385012.1

p.E1506K

c.4516G>A

1 paper

NM_001385012.1

p.S1497C

c.4490C>G

1 paper

NM_001385012.1

p.V1507D

c.4520T>A

1 paper

NM_001385012.1

p.N1495fs

c.4483_4484fs

1 paper

NM_001385012.1

p.N1495fs

c.4483_4484fs

4 papers

NM_001385012.1

p.N1495delFs

c.4484delA

1 paper

NM_001385012.1

p.G1494fs

c.4480_4481fs

1 paper

NM_001385012.1

p.R1493S

c.4479G>C

1 paper

NM_001385012.1

p.R1493S

c.4479G>T

1 paper

NM_001385012.1

p.R1493fs

c.4477_4478fs

1 paper

NM_001385012.1

p.R1493delFs

c.4477_4478delAG