Varaico: Literature-Extracted Genetic Variants

AP3B1

285 papers

RefSeq Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 p...

Pfam Domains

Adaptin_Naa 40–584UCSCAdaptin N terminal region

SEEEEDaa 671–786UCSCSerine-rich region of AP3B1, clathrin-adaptor complex

AP3B1_Caa 812–871UCSCClathrin-adaptor complex-3 beta-1 subunit C-terminal

AP3B1_Caa 812–958UCSCClathrin-adaptor complex-3 beta-1 subunit C-terminal

AP3B1_C_2aa 980–1091UCSCAP-3 complex subunit beta-1, C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit beta 1

HGNC Alias Symbols

ADTB3A; HPS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003664.5

p.K923N

c.2769A>C

Surrounding Variants

1 paper

NM_003664.5

p.K923N

c.2769A>T

2 papers

NM_003664.5

p.L924fs

c.2770_2771fs

1 paper

NM_003664.5

p.K923delFs

c.2769delT

3 papers

NM_003664.5

p.L924delFs

c.2770delG

1 paper

NM_003664.5

p.K923fs

c.2767_2768fs

1 paper

NM_003664.5

p.E921G

c.2762A>G

2 papers

NM_003664.5

p.G927S

c.2779G>A

1 paper

NM_003664.5

p.G927D

c.2780G>A

1 paper

NM_003664.5

p.I919delFs

c.2757delT

2 papers

NM_003664.5

p.K929_M930insC

c.2785_2789ins3

1 paper

NM_003664.5

p.I936V

c.2806A>G

5 papers

NM_003664.5

p.S901C

c.2702C>G