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.N452fs

c.1354_1355fs

Surrounding Variants

2 papers

NM_001253852.3

p.N452delFs

c.1355delT

1 paper

NM_001253852.3

p.N452fs

c.1354_1355fs

1 paper

NM_001253852.3

p.Y455*

c.1365T>G

1 paper

NM_001253852.3

p.Y455*

c.1365T>A

12 papers

NM_001253852.3

p.R449*

c.1345A>T

1 paper

NM_001253852.3

p.V445V

c.1335C>T

1 paper

NM_001253852.3

p.G444V

c.1331G>T

9 papers

NM_001253852.3

p.L443P

c.1328T>C

1 paper

NM_001253852.3

p.L439insFs

c.1317dupT

1 paper

NM_001253852.3

p.S466L

c.1397C>T

1 paper

NM_001253852.3

p.A479T

c.1435G>A

1 paper

NM_001253852.3

p.A479V

c.1436C>T