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.R104*

c.310C>T

Surrounding Variants

4 papers

NM_003664.5

p.L102P

c.305T>C

1 paper

NM_003664.5

p.Q109R

c.326A>G

1 paper

NM_003664.5

p.V98I

c.292G>A

1 paper

NM_003664.5

p.Q110E

c.328C>G

1 paper

NM_003664.5

p.D111E

c.333T>G

1 paper

NM_003664.5

p.D111E

c.333T>A

1 paper

NM_003664.5

p.I94fs

c.280_281fs

1 paper

NM_003664.5

p.A113A

c.339A>C

6 papers

NM_003664.5

p.F120Y

c.359T>A

3 papers

NM_003664.5

p.R122*

c.364C>T

1 paper

NM_003664.5

p.E93_I94Splc

c.280-28T>C

1 paper

NM_003664.5

p.D126Y

c.376G>T