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.L386*

c.1157T>G

Surrounding Variants

1 paper

NM_001253852.3

p.L386*

c.1157T>A

1 paper

NM_001253852.3

p.L386delFs

c.1157delA

16 papers

NM_001253852.3

p.T387fs

c.1159_1160fs

6 papers

NM_001253852.3

p.T387fs

c.1159_1160fs

22 papers

NM_001253852.3

p.T387delFs

c.1160_1161delTG

1 paper

NM_001253852.3

p.V383A

c.1148T>C

1 paper

NM_001253852.3

p.C382R

c.1144T>C

1 paper

NM_001253852.3

p.G391C

c.1171G>T

4 papers

NM_001253852.3

p.R393*

c.1177C>T

1 paper

NM_001253852.3

p.T379I

c.1136C>T

1 paper

NM_001253852.3

p.R393fs

c.1177_1178fs

1 paper

NM_001253852.3

p.Q394fs

c.1180_1181fs