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.M226delFs

c.677_678delTG

Surrounding Variants

1 paper

NM_004722.4

p.E225_M226insFs

c.675_676insA

3 papers

NM_004722.4

p.R227H

c.680G>A

7 papers

NM_004722.4

p.E232insFs

c.694dupG

3 papers

NM_004722.4

p.E232delFs

c.694delG

1 paper

NM_004722.4

p.E232fs

c.694_695fs

2 papers

NM_004722.4

p.E232fs

c.694_695fs

1 paper

NM_004722.4

p.E232G

c.695A>G

1 paper

NM_004722.4

p.V236L

c.706G>C

1 paper

NM_004722.4

p.V236L

c.706G>T

1 paper

NM_004722.4

p.S239*

c.716C>A

1 paper

NM_004722.4

p.S239*

c.716C>G

2 papers

NM_001363671.2

p.G250S

c.748G>A

NM_004722.4

p.G243S

c.727G>A