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.L1072delFs

c.3214_3215delCT

Surrounding Variants

1 paper

NM_007347.5

p.L1072fs

c.3214_3215fs

1 paper

NM_007347.5

p.Q1073K

c.3217C>A

1 paper

NM_007347.5

p.I1080V

c.3238A>G

1 paper

NM_007347.5

p.S1059*

c.3176C>A

1 paper

NM_007347.5

p.S1059*

c.3176C>G

2 papers

NM_007347.5

p.I1084delFs

c.3250delA

1 paper

NM_007347.5

p.D1051G

c.3152A>G

1 paper

NM_007347.5

p.F1048_A1049delFs

c.3143_3146del4

1 paper

NM_007347.5

p.I1036_S1037del2

c.3106_3110del6

1 paper

NM_007347.5

p.L1089R

c.3266T>G

4 papers

NM_007347.5

p.Q1093*

c.3277C>T

15 papers

NM_007347.5

p.R1105*

c.3313C>T