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.V184V

c.552A>T

Surrounding Variants

1 paper

NM_007347.5

p.R185*

c.553C>T

1 paper

NM_007347.5

p.A188_V189delFs

c.563_566del4

1 paper

NM_007347.5

p.V189delFs

c.567delT

1 paper

NM_007347.5

p.H196N

c.586C>A

3 papers

NM_007347.5

p.H205N

c.613C>A

1 paper

NM_007347.5

p.R211W

c.631C>T

1 paper

NM_007347.5

p.R211Q

c.632G>A

1 paper

NM_007347.5

p.A213T

c.637G>A

3 papers

NM_007347.5

p.D218delFs

c.652_653delGA

1 paper

NM_007347.5

p.D218_V219del1

c.653_655delATG

1 paper

NM_007347.5

p.D218fs

c.652_653fs

1 paper

NM_007347.5

p.V219I

c.655G>A