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.E13D

c.39G>C

Surrounding Variants

1 paper

NM_001385012.1

p.E13D

c.39G>T

1 paper

NM_001385012.1

p.P16_A21del6

c.46_62del18

1 paper

NM_001385012.1

p.P16A

c.46C>G

1 paper

NM_001385012.1

p.P6S

c.16C>T

1 paper

NM_001385012.1

p.P6_G7del2

c.16_20del6

1 paper

NM_001385012.1

p.S3insFs

c.7dupA

1 paper

NM_001385012.1

p.A2_S3delFs

c.6_7delTA

2 papers

NM_001385012.1

p.M1insFs

c.2dupT

1 paper

NM_001385012.1

p.G34R

c.100G>C

1 paper

NM_001385012.1

p.G34V

c.101G>T

1 paper

NM_001385012.1

p.G36V

c.107G>T

1 paper

NM_001385012.1

p.T37A

c.109A>G