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.V302A

c.905T>C

Surrounding Variants

1 paper

NM_004722.4

p.S301delFs

c.901delT

18 papers

NM_004722.4

p.R306*

c.916C>T

1 paper

NM_004722.4

p.L298P

c.893T>C

4 papers

NM_004722.4

p.G307A

c.920G>C

1 paper

NM_004722.4

p.P295P

c.885C>T

1 paper

NM_004722.4

p.R310Splc

c.929+1G>T

4 papers

NM_004722.4

p.R310Splc

c.929+5G>A

1 paper

NM_004722.4

p.L290_F296delFs

c.870_886del17

1 paper

NM_004722.4

p.D288delFs

c.862delG

1 paper

NM_004722.4

p.S287P

c.859T>C

1 paper

NM_004722.4

p.L286_D289delFs

c.857_866del10

7 papers

NM_004722.4

p.Y284S

c.851A>C