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.V421fs

c.1261_1262fs

Surrounding Variants

3 papers

NM_004722.4

p.R422*

c.1264C>T

2 papers

NM_004722.4

p.L419_F428delFs

c.1257_1282del26

1 paper

NM_004722.4

p.L426V

c.1276C>G

2 papers

NM_004722.4

p.R429delFs

c.1287delG

1 paper

NM_004722.4

p.R429fs

c.1285_1286fs

2 papers

NM_004722.4

p.E410K

c.1228G>A

5 papers

NM_004722.4

p.F409L

c.1227C>A

NM_001363671.2

p.F416L

c.1248C>A

5 papers

NM_004722.4

p.F409L

c.1227C>G

NM_001363671.2

p.F416L

c.1248C>G

5 papers

NM_004722.4

p.F409L

c.1225T>C

NM_001363671.2

p.F416L

c.1246T>C

1 paper

NM_004722.4

p.N435N

c.1305C>T

1 paper

NM_004722.4

p.P436S

c.1306C>T

3 papers

NM_004722.4

p.W439*

c.1316G>A