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

1–12 of 1217 variants

22 papers

NM_001253852.3

p.T387delFs

c.1160_1161delTG

19 papers

NM_001253852.3

p.L222delFs

c.664delG

16 papers

NM_001253852.3

p.T387fs

c.1159_1160fs

16 papers

NM_001253852.3

p.L480S

c.1439T>C

12 papers

NM_001253852.3

p.R449*

c.1345A>T

11 papers

NM_001253852.3

p.R406*

c.1216C>T

10 papers

NM_001253852.3

p.E163ins1

c.487_488insTAT

10 papers

NM_001253852.3

p.R487_P488insTAT

c.1459_1463ins9

9 papers

NM_001253852.3

p.R38Splc

c.114-2A>C

9 papers

NM_001253852.3

p.F319L

c.955T>C

9 papers

NM_001253852.3

p.L443P

c.1328T>C

8 papers

NM_001253852.3

p.V193I

c.577G>A