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.F318L

c.952T>C

Surrounding Variants

1 paper

NM_001253852.3

p.F318Y

c.953T>A

1 paper

NM_001253852.3

p.F318L

c.954T>G

1 paper

NM_001253852.3

p.F318L

c.954T>A

9 papers

NM_001253852.3

p.F319L

c.955T>C

7 papers

NM_001253852.3

p.F319L

c.957T>G

7 papers

NM_001253852.3

p.F319L

c.957T>A

1 paper

NM_001253852.3

p.C320fs

c.958_959fs

1 paper

NM_001253852.3

p.K316E

c.946A>G

1 paper

NM_001253852.3

p.C320delFs

c.958delA

2 papers

NM_001253852.3

p.S323L

c.968C>T

2 papers

NM_001253852.3

p.S323delFs

c.967delA

1 paper

NM_001253852.3

p.S323S

c.969G>A