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.R71Q

c.212G>A

Surrounding Variants

1 paper

NM_001385012.1

p.A75V

c.224C>T

1 paper

NM_001385012.1

p.P66L

c.197C>T

1 paper

NM_001385012.1

p.S64L

c.191C>T

1 paper

NM_001385012.1

p.G84fs

c.250_251fs

1 paper

NM_001385012.1

p.G84delFs

c.251_252delGA

1 paper

NM_001385012.1

p.V86ins1

c.257_258insTCA

1 paper

NM_001385012.1

p.E93G

c.278A>G

1 paper

NM_001385012.1

p.A48V

c.143C>T

1 paper

NM_001385012.1

p.T37A

c.109A>G

1 paper

NM_001385012.1

p.G36V

c.107G>T

1 paper

NM_001385012.1

p.G34V

c.101G>T

1 paper

NM_001385012.1

p.G34R

c.100G>C