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.Y751C

c.2252A>G

Surrounding Variants

1 paper

NM_001385012.1

p.L773M

c.2317C>A

1 paper

NM_001385012.1

p.K779Splc

c.2336+3A>T

1 paper

NM_001385012.1

p.M737I

c.2211G>A

1 paper

NM_001385012.1

p.M737I

c.2211G>C

1 paper

NM_001385012.1

p.M737I

c.2211G>T

1 paper

NM_001385012.1

p.A735V

c.2204C>T

1 paper

NM_001385012.1

p.P734Q

c.2201C>A

1 paper

NM_001385012.1

p.P734S

c.2200C>T

1 paper

NM_001385012.1

p.H733Y

c.2197C>T

1 paper

NM_001385012.1

p.N718I

c.2153A>T

1 paper

NM_001385012.1

p.E715K

c.2143G>A

3 papers

NM_001385012.1

p.T712M

c.2135C>T