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.L183delFs

c.548_549delTA

Surrounding Variants

1 paper

NM_001253852.3

p.E184*

c.550G>T

1 paper

NM_001253852.3

p.L183fs

c.547_548fs

1 paper

NM_001253852.3

p.R181G

c.541A>G

1 paper

NM_001253852.3

p.N178_C179del1

c.533_535delAGT

1 paper

NM_001253852.3

p.V177_C179Fs

c.531_535delinsAGAFs

1 paper

NM_001253852.3

p.N178fs

c.532_533fs

4 papers

NM_001253852.3

p.N178fs

c.532_533fs

1 paper

NM_001253852.3

p.V177insFs

c.530_531ins1

7 papers

NM_001253852.3

p.V177insFs

c.530_531insA

1 paper

NM_001253852.3

p.G192G

c.576C>T

1 paper

NM_001253852.3

p.I174insFs

c.521dupT

8 papers

NM_001253852.3

p.V193I

c.577G>A