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

2 papers

NM_001253852.3

p.Q414*

c.1240C>T

Surrounding Variants

1 paper

NM_001253852.3

p.F405_V409del5

c.1213_1226del15

1 paper

NM_001253852.3

p.Q421*

c.1261C>T

11 papers

NM_001253852.3

p.R406*

c.1216C>T

2 papers

NM_001253852.3

p.Q403*

c.1207C>T

1 paper

NM_001253852.3

p.V400V

c.1200G>T

5 papers

NM_001253852.3

p.E428*

c.1282G>T

1 paper

NM_001253852.3

p.V400Splc

c.1199-291T>C

3 papers

NM_001253852.3

p.I397V

c.1189A>G

4 papers

NM_001253852.3

p.Q394delFs

c.1181_1182delTT

1 paper

NM_001253852.3

p.Q394fs

c.1180_1181fs

1 paper

NM_001253852.3

p.Q394fs

c.1180_1181fs

1 paper

NM_001253852.3

p.R393fs

c.1177_1178fs