Varaico: Literature-Extracted Genetic Variants

AP2M1

88 papers

RefSeq Summary

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activi...

Pfam Domains

Clat_adaptor_saa 1–137UCSCClathrin adaptor complex small chain

Adap_comp_subaa 159–435UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 2 subunit mu 1

HGNC Previous Symbol

CLAPM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004068.4

p.V296L

c.886G>C

Surrounding Variants

2 papers

NM_004068.4

p.V296L

c.886G>T

2 papers

NM_004068.4

p.R298H

c.893G>A

1 paper

NM_004068.4

p.R288delFs

c.862delC

1 paper

NM_004068.4

p.P286_V289delFs

c.857_866del10

1 paper

NM_004068.4

p.K308E

c.922A>G

1 paper

NM_004068.4

p.K312E

c.934A>G

1 paper

NM_004068.4

p.A317insFs

c.950dupC

1 paper

NM_004068.4

p.A317V

c.950C>T

1 paper

NM_004068.4

p.F265fs

c.793_794fs

1 paper

NM_004068.4

p.L254H

c.761T>A

1 paper

NM_004068.4

p.R253*

c.757C>T

1 paper

NM_004068.4

p.V252M

c.754G>A