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.L189insFs

c.566dupT

Surrounding Variants

2 papers

NM_004722.4

p.L189delFs

c.566delT

1 paper

NM_001363671.2

p.E193K

c.577G>A

1 paper

NM_004722.4

p.F188S

c.563T>C

1 paper

NM_004722.4

p.L189fs

c.565_566fs

1 paper

NM_004722.4

p.D190A

c.569A>C

1 paper

NM_004722.4

p.Q183*

c.547C>T

1 paper

NM_004722.4

p.Q181_S182Splc

c.544-2A>G

1 paper

NM_004722.4

p.Q181_S182Splc

c.544-2A>T

15 papers

NM_004722.4

p.E193K

c.577G>A

1 paper

NM_004722.4

p.R194_L195del2

c.580_584del6

1 paper

NM_004722.4

p.Q181_S182Splc

c.544-6T>G

1 paper

NM_004722.4

p.S177insFs

c.530_531insA