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

1 paper

NM_004068.4

p.W161_R162delFs

c.481_485del5

Surrounding Variants

2 papers

NM_004068.4

p.R162Q

c.485G>A

3 papers

NM_004068.4

p.T156A

c.466A>G

1 paper

NM_004068.4

p.K167N

c.501G>C

1 paper

NM_004068.4

p.K167N

c.501G>T

9 papers

NM_004068.4

p.R170W

c.508C>T

1 paper

NM_004068.4

p.E147del1

c.439_440delGAG

1 paper

NM_004068.4

p.E146G

c.437A>G

2 papers

NM_004068.4

p.D176A

c.527A>C

1 paper

NM_004068.4

p.E146_E147del1

c.438_440delAGA

1 paper

NM_004068.4

p.G189R

c.565G>A

1 paper

NM_004068.4

p.H195Y

c.583C>T

1 paper

NM_004068.4

p.Q141_H142Splc

c.424-27G>A