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

1–12 of 60 variants

9 papers

NM_004068.4

p.R170W

c.508C>T

3 papers

NM_004068.4

p.T156A

c.466A>G

2 papers

NM_004068.4

p.R21L

c.62G>T

2 papers

NM_004068.4

p.G25R

c.73G>A

2 papers

NM_004068.4

p.G25R

c.73G>C

2 papers

NM_004068.4

p.K59N

c.177G>C

2 papers

NM_004068.4

p.K59N

c.177G>T

2 papers

NM_004068.4

p.R162Q

c.485G>A

2 papers

NM_004068.4

p.D176A

c.527A>C

2 papers

NM_004068.4

p.V296L

c.886G>C

2 papers

NM_004068.4

p.V296L

c.886G>T

2 papers

NM_004068.4

p.R298H

c.893G>A