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.S374_F375insFs

c.1122_1123insAG

Surrounding Variants

2 papers

NM_003664.5

p.F375fs

c.1123_1124fs

1 paper

NM_003664.5

p.F375S

c.1124T>C

2 papers

NM_003664.5

p.E369G

c.1106A>G

2 papers

NM_003664.5

p.G366_F368del0

c.1096_1104del9

6 papers

NM_003664.5

p.K365_G366Splc

c.1095+5G>A

8 papers

NM_003664.5

p.T359A

c.1075A>G

5 papers

NM_003664.5

p.I357V

c.1069A>G

2 papers

NM_003664.5

p.Q355Fs

c.1063_1064delinsTATCAATATCFs

3 papers

NM_003664.5

p.Q355fs

c.1063_1064fs

1 paper

NM_003664.5

p.I352insFs

c.1054dupA

1 paper

NM_003664.5

p.R344H

c.1031G>A

4 papers

NM_003664.5

p.R341H

c.1022G>A