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

5 papers

NM_004722.4

p.N73insFs

c.218dupA

Surrounding Variants

1 paper

NM_004722.4

p.N73fs

c.217_218fs

3 papers

NM_004722.4

p.N73fs

c.217_218fs

1 paper

NM_004722.4

p.V74I

c.220G>A

4 papers

NM_004722.4

p.T69P

c.205A>C

1 paper

NM_004722.4

p.V68_E72delFs

c.204_214del11

1 paper

NM_004722.4

p.P76P

c.228C>T

1 paper

NM_004722.4

p.Y65fs

c.193_194fs

5 papers

NM_004722.4

p.Y65fs

c.193_194fs

6 papers

NM_004722.4

p.Y65delFs

c.194_195delAT

1 paper

NM_004722.4

p.L79H

c.236T>A

1 paper

NM_004722.4

p.L64P

c.191T>C

1 paper

NM_004722.4

p.L80L

c.238C>T