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.K163ins1

c.487_488insTAT

Surrounding Variants

1 paper

NM_004722.4

p.K163insFs

c.488_489ins8

1 paper

NM_004722.4

p.P166delFs

c.498delC

1 paper

NM_004722.4

p.P166S

c.496C>T

1 paper

NM_004722.4

p.S167C

c.499A>T

1 paper

NM_004722.4

p.S167fs

c.499_500fs

1 paper

NM_004722.4

p.A157_S162insFs

c.469_484dup16

2 papers

NM_004722.4

p.V174fs

c.520_521fs

6 papers

NM_004722.4

p.V174insFs

c.521dupT

1 paper

NM_004722.4

p.L175fs

c.523_524fs

2 papers

NM_004722.4

p.L175fs

c.523_524fs

1 paper

NM_004722.4

p.S177insFs

c.530_531insA

1 paper

NM_004722.4

p.D148H

c.442G>C