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

4 papers

NM_007347.5

p.M542V

c.1624A>G

Surrounding Variants

1 paper

NM_007347.5

p.A552T

c.1654G>A

1 paper

NM_007347.5

p.P530_E531insA

c.1588_1592ins3

1 paper

NM_007347.5

p.V558V

c.1674G>T

1 paper

NM_007347.5

p.T562I

c.1685C>T

1 paper

NM_007347.5

p.S563_H566del4

c.1687_1697del12

1 paper

NM_007347.5

p.A565E

c.1694C>A

1 paper

NM_007347.5

p.A565V

c.1694C>T

7 papers

NM_007347.5

p.V517I

c.1549G>A

NM_001252127.2

p.V442I

c.1324G>A

1 paper

NM_007347.5

p.H589delFs

c.1765delC

1 paper

NM_007347.5

p.L602F

c.1804C>T

2 papers

NM_007347.5

p.R611delFs

c.1833delG

1 paper

NM_007347.5

p.S612fs

c.1834_1835fs