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.R730W

c.2188C>T

Surrounding Variants

1 paper

NM_003664.5

p.R730Q

c.2189G>A

1 paper

NM_003664.5

p.S726G

c.2176A>G

1 paper

NM_003664.5

p.E718K

c.2152G>A

1 paper

NM_003664.5

p.K745E

c.2233A>G

1 paper

NM_003664.5

p.K747Q

c.2239A>C

1 paper

NM_003664.5

p.D711V

c.2132A>T

1 paper

NM_003664.5

p.S750Splc

c.2249+1G>A

1 paper

NM_003664.5

p.S698N

c.2093G>A

1 paper

NM_003664.5

p.S694N

c.2081G>A

3 papers

NM_003664.5

p.E693fs

c.2077_2078fs

1 paper

NM_003664.5

p.D687N

c.2059G>A

1 paper

NM_003664.5

p.S686delFs

c.2058delA