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

7 papers

NM_003664.5

p.F887L

c.2659T>C

Surrounding Variants

1 paper

NM_003664.5

p.F887insFs

c.2660_2661insC

7 papers

NM_003664.5

p.F887L

c.2661C>G

7 papers

NM_003664.5

p.F887L

c.2661C>A

1 paper

NM_003664.5

p.Q891*

c.2671C>T

1 paper

NM_003664.5

p.Q891H

c.2673G>T

1 paper

NM_003664.5

p.Q891H

c.2673G>C

2 papers

NM_003664.5

p.R876*

c.2626C>T

1 paper

NM_003664.5

p.V900fs

c.2698_2699fs

5 papers

NM_003664.5

p.S901C

c.2702C>G

1 paper

NM_003664.5

p.H871H

c.2613C>T

1 paper

NM_003664.5

p.T868M

c.2603C>T

1 paper

NM_003664.5

p.I919delFs

c.2757delT