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.V252A

c.755T>C

Surrounding Variants

1 paper

NM_001253852.3

p.G250S

c.748G>A

1 paper

NM_001253852.3

p.A255V

c.764C>T

2 papers

NM_001253852.3

p.T256I

c.767C>T

1 paper

NM_001253852.3

p.K257fs

c.769_770fs

1 paper

NM_001253852.3

p.N238K

c.714T>G

1 paper

NM_001253852.3

p.N238K

c.714T>A

1 paper

NM_001253852.3

p.I236L

c.706A>C

1 paper

NM_001253852.3

p.E232fs

c.694_695fs

1 paper

NM_001253852.3

p.E232G

c.695A>G

1 paper

NM_001253852.3

p.E232fs

c.694_695fs

2 papers

NM_001253852.3

p.S229G

c.685A>G

1 paper

NM_001253852.3

p.R276W

c.826C>T