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.L365P

c.1094T>C

Surrounding Variants

4 papers

NM_004722.4

p.R367Q

c.1100G>A

1 paper

NM_004722.4

p.D364_L365del2

c.1090_1094del6

1 paper

NM_004722.4

p.R362C

c.1084C>T

1 paper

NM_004722.4

p.A360D

c.1079C>A

8 papers

NM_004722.4

p.Q373*

c.1117C>T

2 papers

NM_004722.4

p.G376D

c.1127G>A

1 paper

NM_004722.4

p.L377delFs

c.1129delC

2 papers

NM_004722.4

p.A354P

c.1060G>C

1 paper

NM_001363671.2

p.A361S

c.1081G>T

1 paper

NM_004722.4

p.L377fs

c.1129_1130fs

21 papers

NM_004722.4

p.Q379_M380Splc

c.1137+1G>T

1 paper

NM_004722.4

p.Q345R

c.1034A>G