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.S871G

c.2611A>G

Surrounding Variants

2 papers

NM_007347.5

p.S868delFs

c.2604delA

1 paper

NM_007347.5

p.S868A

c.2602T>G

1 paper

NM_007347.5

p.S868fs

c.2602_2603fs

1 paper

NM_007347.5

p.N881_S891del11

c.2641_2672del33

2 papers

NM_007347.5

p.S857*

c.2570C>A

2 papers

NM_007347.5

p.S857*

c.2570C>G

1 paper

NM_007347.5

p.L853F

c.2559G>C

1 paper

NM_007347.5

p.L853F

c.2559G>T

1 paper

NM_007347.5

p.S847A

c.2539T>G

1 paper

NM_007347.5

p.S905P

c.2713T>C

1 paper

NM_007347.5

p.E909fs

c.2725_2726fs

1 paper

NM_007347.5

p.N823D

c.2467A>G