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.P337L

c.1010C>T

Surrounding Variants

16 papers

NM_004722.4

p.R338*

c.1012C>T

1 paper

NM_004722.4

p.L334L

c.1002C>T

1 paper

NM_004722.4

p.V340_V341delFs

c.1020_1021delGG

1 paper

NM_004722.4

p.V341_S342ins6

c.1021_1025ins18

1 paper

NM_004722.4

p.V341_S342ins8

c.1021_1025ins24

1 paper

NM_004722.4

p.H333P

c.998A>C

1 paper

NM_004722.4

p.S342fs

c.1024_1025fs

2 papers

NM_004722.4

p.S342Splc

c.1025+1G>A

1 paper

NM_004722.4

p.S342Splc

c.1025+4A>T

1 paper

NM_004722.4

p.N329delFs

c.986_987delAT

1 paper

NM_004722.4

p.N329fs

c.985_986fs

1 paper

NM_004722.4

p.A327A

c.981C>T