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.K59N

c.177G>C

Surrounding Variants

2 papers

NM_004068.4

p.K59N

c.177G>T

1 paper

NM_004068.4

p.R60Q

c.179G>A

1 paper

NM_004068.4

p.A75T

c.223G>A

1 paper

NM_004068.4

p.V34I

c.100G>A

1 paper

NM_004068.4

p.R33R

c.99G>T

1 paper

NM_004068.4

p.R33Q

c.98G>A

1 paper

NM_004068.4

p.R33W

c.97C>T

1 paper

NM_004068.4

p.G25Splc

c.75-1G>T

1 paper

NM_004068.4

p.E125K

c.373G>A

1 paper

NM_004068.4

p.G127G

c.381C>G

1 paper

NM_004068.4

p.K130R

c.389A>G

1 paper

NM_004068.4

p.S140N

c.419G>A