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.L499delFs

c.1496delA

Surrounding Variants

3 papers

NM_001253852.3

p.L499F

c.1497G>T

1 paper

NM_001253852.3

p.L499fs

c.1495_1496fs

3 papers

NM_001253852.3

p.L499F

c.1497G>C

1 paper

NM_001253852.3

p.L499fs

c.1495_1496fs

1 paper

NM_001253852.3

p.R497H

c.1490G>A

1 paper

NM_001253852.3

p.C502Y

c.1505G>A

1 paper

NM_001253852.3

p.I503T

c.1508T>C

1 paper

NM_001253852.3

p.E504Splc

c.1510+1G>A

1 paper

NM_001253852.3

p.P488H

c.1463C>A

1 paper

NM_001253852.3

p.R487*

c.1459C>T

10 papers

NM_001253852.3

p.R487_P488insTAT

c.1459_1463ins9

1 paper

NM_001253852.3

p.R482C

c.1444C>T