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.L122delFs

c.364_365delTT

Surrounding Variants

1 paper

NM_007347.5

p.K140_D141Splc

c.421-121G>A

1 paper

NM_007347.5

p.T145S

c.433A>T

1 paper

NM_007347.5

p.T145delFs

c.434delC

1 paper

NM_007347.5

p.T145fs

c.433_434fs

1 paper

NM_007347.5

p.T145insFs

c.434_435ins8

1 paper

NM_007347.5

p.T145S

c.434C>G

1 paper

NM_007347.5

p.C151delFs

c.453delT

5 papers

NM_001252127.2

p.C88R

c.262T>C

NM_007347.5

p.C163R

c.487T>C

1 paper

NM_007347.5

p.A168D

c.503C>A

1 paper

NM_007347.5

p.D175delFs

c.523delG

1 paper

NM_007347.5

p.L177insFs

c.530_531insA

1 paper

NM_007347.5

p.K181Splc

c.542+3A>G