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

1 paper

NM_007347.5

p.L273delFs

c.818delT

Surrounding Variants

1 paper

NM_007347.5

p.L273insFs

c.817dupT

1 paper

NM_007347.5

p.L273insFs

c.817_818insA

1 paper

NM_007347.5

p.L273delFs

c.819delA

1 paper

NM_007347.5

p.L273_Q274delFs

c.819_822del4

1 paper

NM_007347.5

p.P271_W272delFs

c.813_816del4

2 papers

NM_007347.5

p.L277delFs

c.830delT

1 paper

NM_007347.5

p.L277fs

c.829_830fs

1 paper

NM_007347.5

p.L278delFs

c.833delT

1 paper

NM_007347.5

p.L278*

c.833T>A

5 papers

NM_007347.5

p.N264S

c.791A>G

1 paper

NM_001252127.2

p.N189delFs

c.567delT

1 paper

NM_007347.5

p.L284R

c.851T>G