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

8 papers

NM_001253852.3

p.R206Q

c.617G>A

Surrounding Variants

1 paper

NM_001253852.3

p.R206*

c.616C>T

1 paper

NM_001253852.3

p.S208*

c.623C>G

1 paper

NM_001253852.3

p.S208*

c.623C>A

1 paper

NM_001253852.3

p.Q212*

c.634C>T

1 paper

NM_001253852.3

p.A216D

c.647C>A

1 paper

NM_001253852.3

p.L219delFs

c.656_657delCA

8 papers

NM_001253852.3

p.L222fs

c.664_665fs

19 papers

NM_001253852.3

p.L222delFs

c.664delG

3 papers

NM_001253852.3

p.L222fs

c.664_665fs

1 paper

NM_001253852.3

p.Q226Q

c.678A>G

1 paper

NM_001253852.3

p.R228L

c.683G>T

2 papers

NM_001253852.3

p.S229G

c.685A>G