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

3 papers

NM_004722.4

p.W439*

c.1316G>A

Surrounding Variants

1 paper

NM_004722.4

p.W439S

c.1316G>C

3 papers

NM_004722.4

p.W439*

c.1317G>A

9 papers

NM_004722.4

p.R441*

c.1321C>T

2 papers

NM_004722.4

p.R441Q

c.1322G>A

1 paper

NM_004722.4

p.P436S

c.1306C>T

1 paper

NM_004722.4

p.N435N

c.1305C>T

1 paper

NM_004722.4

p.L443P

c.1328T>C

1 paper

NM_004722.4

p.S446S

c.1338C>T

1 paper

NM_004722.4

p.D447N

c.1339G>A

1 paper

NM_004722.4

p.Y449C

c.1346A>G

2 papers

NM_004722.4

p.R429delFs

c.1287delG

1 paper

NM_004722.4

p.R429fs

c.1285_1286fs