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.D530G

c.1589A>G

Surrounding Variants

3 papers

NM_003664.5

p.I536K

c.1607T>A

2 papers

NM_003664.5

p.L537*

c.1610T>G

2 papers

NM_003664.5

p.L537*

c.1610T>A

6 papers

NM_003664.5

p.G540insFs

c.1619dupG

2 papers

NM_003664.5

p.A541T

c.1621G>A

3 papers

NM_003664.5

p.A541fs

c.1621_1622fs

1 paper

NM_003664.5

p.Y544delFs

c.1631delT

1 paper

NM_003664.5

p.N547S

c.1640A>G

1 paper

NM_003664.5

p.P511A

c.1531C>G

12 papers

NM_003664.5

p.R509*

c.1525C>T

1 paper

NM_003664.5

p.E508K

c.1522G>A