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

1–12 of 228 variants

21 papers

NM_004722.4

p.R318*

c.952C>T

21 papers

NM_004722.4

p.Q379_M380Splc

c.1137+1G>T

18 papers

NM_004722.4

p.R306*

c.916C>T

16 papers

NM_004722.4

p.R338*

c.1012C>T

15 papers

NM_004722.4

p.E193K

c.577G>A

9 papers

NM_004722.4

p.R441*

c.1321C>T

8 papers

NM_004722.4

p.R268*

c.802C>T

8 papers

NM_004722.4

p.Q373*

c.1117C>T

7 papers

NM_004722.4

p.E232insFs

c.694dupG

7 papers

NM_004722.4

p.Y284S

c.851A>C

6 papers

NM_004722.4

p.Y65delFs

c.194_195delAT

6 papers

NM_004722.4

p.V174insFs

c.521dupT