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.F6Fs

c.16delinsTGFs

Surrounding Variants

1 paper

NM_004068.4

p.G4S

c.10G>A

1 paper

NM_004068.4

p.N9fs

c.25_26fs

1 paper

NM_004068.4

p.V14M

c.40G>A

1 paper

NM_004068.4

p.V19fs

c.55_56fs

1 paper

NM_004068.4

p.R21*

c.61C>T

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

1 paper

NM_004068.4

p.G25Splc

c.75-1G>T

1 paper

NM_004068.4

p.R33W

c.97C>T

1 paper

NM_004068.4

p.R33Q

c.98G>A

1 paper

NM_004068.4

p.R33R

c.99G>T