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.V315A

c.944T>C

Surrounding Variants

1 paper

NM_003664.5

p.Q321R

c.962A>G

1 paper

NM_003664.5

p.A320delFs

c.959_960delAG

1 paper

NM_003664.5

p.H325insFs

c.974_975insC

1 paper

NM_003664.5

p.I326V

c.976A>G

1 paper

NM_003664.5

p.S327A

c.979T>G

1 paper

NM_003664.5

p.S336_K337delFs

c.1008_1009delTA

4 papers

NM_003664.5

p.R341H

c.1022G>A

1 paper

NM_003664.5

p.R344H

c.1031G>A

1 paper

NM_003664.5

p.I352insFs

c.1054dupA

3 papers

NM_003664.5

p.Q355fs

c.1063_1064fs

2 papers

NM_003664.5

p.Q355Fs

c.1063_1064delinsTATCAATATCFs

5 papers

NM_003664.5

p.I357V

c.1069A>G