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

1–12 of 196 variants

15 papers

NM_007347.5

p.R1105*

c.3313C>T

6 papers

NM_007347.5

p.V517I

c.1549G>A

5 papers

NM_007347.5

p.N264S

c.791A>G

4 papers

NM_007347.5

p.C163R

c.487T>C

4 papers

NM_007347.5

p.I426L

c.1276A>C

4 papers

NM_007347.5

p.M542V

c.1624A>G

4 papers

NM_007347.5

p.V618I

c.1852G>A

4 papers

NM_007347.5

p.E801K

c.2401G>A

4 papers

NM_007347.5

p.L1072delFs

c.3214_3215delCT

4 papers

NM_007347.5

p.Q1093*

c.3277C>T

3 papers

NM_007347.5

p.H205N

c.613C>A

3 papers

NM_007347.5

p.D218delFs

c.652_653delGA