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

9 papers

NM_001253852.3

p.R38Splc

c.114-2A>C

Surrounding Variants

6 papers

NM_001253852.3

p.R38Splc

c.114-2A>G

1 paper

NM_001253852.3

p.R38K

c.113G>A

1 paper

NM_001253852.3

p.R38Splc

c.114-14T>A

1 paper

NM_001253852.3

p.V54L

c.160G>T

3 papers

NM_001253852.3

p.E52_M53del2

c.154_158del6

1 paper

NM_001253852.3

p.I62fs

c.184_185fs

1 paper

NM_001253852.3

p.I62insFs

c.184dupA

1 paper

NM_001253852.3

p.P77L

c.230C>T

1 paper

NM_001253852.3

p.P80S

c.238C>T

2 papers

NM_001253852.3

p.A83P

c.247G>C

1 paper

NM_001253852.3

p.L90L

c.270G>A

1 paper

NM_001253852.3

p.D93D

c.279C>T