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.R271H

c.812G>A

Surrounding Variants

8 papers

NM_004722.4

p.R268*

c.802C>T

1 paper

NM_004722.4

p.P275H

c.824C>A

2 papers

NM_004722.4

p.Q276*

c.826C>T

1 paper

NM_004722.4

p.Q276P

c.827A>C

1 paper

NM_004722.4

p.E263K

c.787G>A

1 paper

NM_004722.4

p.N260S

c.779A>G

1 paper

NM_004722.4

p.S258F

c.773C>T

1 paper

NM_004722.4

p.S257_V259del0

c.771_776del6

1 paper

NM_004722.4

p.H256insFs

c.768dupC

1 paper

NM_004722.4

p.S254P

c.760T>C

1 paper

NM_004722.4

p.D251N

c.751G>A

1 paper

NM_004722.4

p.G245A

c.734G>C