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

Selected Variant

1 paper

NM_006803.4

p.A200V

c.599C>T

Surrounding Variants

1 paper

NM_006803.4

p.T199I

c.596C>T

1 paper

NM_006803.4

p.R246H

c.737G>A

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.W341*

c.1022G>A

1 paper

NM_006803.4

p.W341*

c.1023G>A

1 paper

NM_006803.4

p.G160V

c.479G>T

1 paper

NM_006803.4

p.E397E

c.1191A>G

1 paper

NM_006803.4

p.I134T

c.401T>C

1 paper

NM_006803.4

p.L117F

c.349C>T

1 paper

NM_006803.4

p.E111Q

c.331G>C

1 paper

NM_006803.4

p.V96I

c.286G>A