Varaico: Literature-Extracted Genetic Variants

AP4B1

184 papers

RefSeq Summary

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene a...

Pfam Domains

Adaptin_Naa 6–525UCSCAdaptin N terminal region

B2-adapt-app_Caa 621–731UCSCBeta2-adaptin appendage, C-terminal sub-domain

Gene Aliases

HGNC Name

adaptor related protein complex 4 subunit beta 1

HGNC Previous Symbol

SPG47

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001253852.3

p.C298*

c.894T>A

Surrounding Variants

1 paper

NM_001253852.3

p.L304L

c.912G>A

1 paper

NM_001253852.3

p.R290H

c.869G>A

2 papers

NM_001253852.3

p.R290C

c.868C>T

1 paper

NM_001253852.3

p.S289S

c.867C>T

1 paper

NM_001253852.3

p.S289delFs

c.865_866delCT

1 paper

NM_001253852.3

p.S289fs

c.865_866fs

1 paper

NM_001253852.3

p.G309delFs

c.926delC

1 paper

NM_001253852.3

p.H310P

c.929A>C

1 paper

NM_001253852.3

p.A284A

c.852C>G

1 paper

NM_001253852.3

p.A283T

c.847G>A

1 paper

NM_001253852.3

p.K316E

c.946A>G

1 paper

NM_001253852.3

p.F318L

c.952T>C