Varaico: Literature-Extracted Genetic Variants

AP4M1

167 papers

RefSeq Summary

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sort...

Pfam Domains

Clat_adaptor_saa 55–146UCSCClathrin adaptor complex small chain

Adap_comp_subaa 180–460UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 4 subunit mu 1

HGNC Alias Symbols

MU-ARP2; MU-4; SPG50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004722.4

p.T136M

c.407C>T

Surrounding Variants

1 paper

NM_004722.4

p.Q135H

c.405G>C

1 paper

NM_004722.4

p.Q135H

c.405G>T

2 papers

NM_004722.4

p.N132S

c.395A>G

1 paper

NM_004722.4

p.T127M

c.380C>T

1 paper

NM_004722.4

p.S145insFs

c.434_435ins8

1 paper

NM_004722.4

p.D148H

c.442G>C

1 paper

NM_004722.4

p.V122I

c.364G>A

1 paper

NM_004722.4

p.Y121*

c.363T>A

1 paper

NM_004722.4

p.Y121*

c.363T>G

1 paper

NM_004722.4

p.V122delFs

c.364_365delGT

1 paper

NM_004722.4

p.L117_D118Splc

c.352-2A>G

1 paper

NM_004722.4

p.A157_S162insFs

c.469_484dup16