Varaico: Literature-Extracted Genetic Variants

AP4E1

120 papers

RefSeq Summary

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the sec...

Pfam Domains

Adaptin_Naa 52–601UCSCAdaptin N terminal region

AP4E_app_platfaa 1033–1133UCSCAdaptin AP4 complex epsilon appendage platform

Gene Aliases

HGNC Name

adaptor related protein complex 4 subunit epsilon 1

HGNC Alias Symbols

AP-4-EPSILON; SPG51

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007347.5

p.A453insFs

c.1358_1359dupCT

Surrounding Variants

3 papers

NM_007347.5

p.V454fs

c.1360_1361fs

2 papers

NM_001252127.2

p.I391F

c.1171A>T

NM_007347.5

p.I466F

c.1396A>T

1 paper

NM_007347.5

p.P467P

c.1401C>T

2 papers

NM_007347.5

p.A475V

c.1424C>T

1 paper

NM_007347.5

p.R509delFs

c.1525delA

1 paper

NM_007347.5

p.Q512*

c.1534C>T

1 paper

NM_007347.5

p.K439Splc

c.1316+6C>G

1 paper

NM_007347.5

p.G431fs

c.1291_1292fs

2 papers

NM_007347.5

p.G431delFs

c.1291delG

2 papers

NM_007347.5

p.N428S

c.1283A>G

4 papers

NM_007347.5

p.I426L

c.1276A>C

1 paper

NM_007347.5

p.E415*

c.1243G>T