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.Q253K

c.757C>A

Surrounding Variants

1 paper

NM_007347.5

p.L251_K252del2

c.751_755del6

1 paper

NM_007347.5

p.V248fs

c.742_743fs

1 paper

NM_007347.5

p.K258_L259delFs

c.774_777del4

2 papers

NM_007347.5

p.F247insFs

c.741dupT

1 paper

NM_007347.5

p.D242delFs

c.726delC

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.P271_W272delFs

c.813_816del4

1 paper

NM_007347.5

p.L273insFs

c.817dupT

1 paper

NM_007347.5

p.L273delFs

c.818delT

1 paper

NM_007347.5

p.L273insFs

c.817_818insA

1 paper

NM_007347.5

p.L273delFs

c.819delA