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

2 papers

NM_003664.5

p.R311fs

c.931_932fs

Surrounding Variants

2 papers

NM_003664.5

p.S310insFs

c.929_930insC

2 papers

NM_003664.5

p.S310G

c.928A>G

1 paper

NM_003664.5

p.L307delFs

c.921delC

1 paper

NM_003664.5

p.K305R

c.914A>G

2 papers

NM_003664.5

p.T304I

c.911C>T

8 papers

NM_003664.5

p.R302*

c.904A>T

1 paper

NM_003664.5

p.R302G

c.904A>G

2 papers

NM_003664.5

p.L299F

c.895C>T

1 paper

NM_003664.5

p.R298K

c.893G>A

1 paper

NM_003664.5

p.P290L

c.869C>T

1 paper

NM_003664.5

p.D285del1

c.853_855delGTC

1 paper

NM_003664.5

p.K283E

c.847A>G