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

21 papers

NM_004722.4

p.R318*

c.952C>T

Surrounding Variants

3 papers

NM_004722.4

p.R318Q

c.953G>A

6 papers

NM_004722.4

p.C319R

c.955T>C

NM_001363671.2

p.C326R

c.976T>C

3 papers

NM_004722.4

p.C319Y

c.956G>A

1 paper

NM_004722.4

p.L317insFs

c.950dupT

1 paper

NM_004722.4

p.L321V

c.961C>G

1 paper

NM_001363671.2

p.Q319R

c.956A>G

1 paper

NM_004722.4

p.L311F

c.931C>T

1 paper

NM_004722.4

p.S325Splc

c.974+1G>A

3 papers

NM_004722.4

p.S325Splc

c.974+1G>T

1 paper

NM_004722.4

p.Q326*

c.976C>T

1 paper

NM_004722.4

p.A327T

c.979G>A

1 paper

NM_004722.4

p.A327A

c.981C>T