Varaico: Literature-Extracted Genetic Variants

AP3M2

28 papers

RefSeq Summary

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein tra...

Pfam Domains

Clat_adaptor_saa 1–136UCSCClathrin adaptor complex small chain

Adap_comp_subaa 165–418UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit mu 2

HGNC Alias Symbols

CLA20; AP47B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

2 papers

NM_006803.4

p.R283Q

c.848G>A

2 papers

NM_006803.4

p.R290S

c.868C>A

1 paper

NM_006803.4

p.N9S

c.26A>G

1 paper

NM_006803.4

p.S10F

c.29C>T

1 paper

NM_006803.4

p.H19N

c.55C>A

1 paper

NM_006803.4

p.S25G

c.73A>G

1 paper

NM_006803.4

p.C29Y

c.86G>A

1 paper

NM_006803.4

p.P50S

c.148C>T

1 paper

NM_006803.4

p.R85Q

c.254G>A

1 paper

NM_006803.4

p.G95G

c.285A>G

1 paper

NM_006803.4

p.V96I

c.286G>A

1 paper

NM_006803.4

p.E111Q

c.331G>C