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.R795delFs

c.2383delA

Surrounding Variants

2 papers

NM_001252127.2

p.R719G

c.2155A>G

NM_007347.5

p.R794G

c.2380A>G

1 paper

NM_007347.5

p.R795fs

c.2383_2384fs

4 papers

NM_007347.5

p.E801K

c.2401G>A

3 papers

NM_007347.5

p.S804insFs

c.2412dupT

2 papers

NM_007347.5

p.G805fs

c.2413_2414fs

1 paper

NM_007347.5

p.M813_S816del4

c.2437_2447del12

1 paper

NM_007347.5

p.M813V

c.2437A>G

1 paper

NM_007347.5

p.S819_S822del4

c.2455_2465del12

1 paper

NM_007347.5

p.N823D

c.2467A>G

1 paper

NM_007347.5

p.S847A

c.2539T>G

1 paper

NM_007347.5

p.L853F

c.2559G>C

1 paper

NM_007347.5

p.L853F

c.2559G>T