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

3 papers

NM_001385012.1

p.R145*

c.433C>T

Surrounding Variants

1 paper

NM_001385012.1

p.R145Q

c.434G>A

1 paper

NM_001385012.1

p.R149W

c.445C>T

1 paper

NM_001385012.1

p.M139T

c.416T>C

1 paper

NM_001385012.1

p.L151V

c.451T>G

1 paper

NM_001385012.1

p.G158G

c.474G>C

1 paper

NM_001385012.1

p.D129fs

c.385_386fs

1 paper

NM_001385012.1

p.D129delFs

c.385delG

1 paper

NM_001385012.1

p.C128F

c.383G>T

1 paper

NM_001385012.1

p.Q162*

c.484C>T

1 paper

NM_001385012.1

p.M121L

c.361A>C

1 paper

NM_001385012.1

p.M121L

c.361A>T

1 paper

NM_001385012.1

p.C120Y

c.359G>A