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.E669D

c.2007G>C

Surrounding Variants

1 paper

NM_003664.5

p.E669D

c.2007G>T

2 papers

NM_003664.5

p.S671F

c.2012C>T

1 paper

NM_003664.5

p.A672A

c.2016T>C

1 paper

NM_003664.5

p.Y676C

c.2027A>G

1 paper

NM_003664.5

p.P662A

c.1984C>G

1 paper

NM_003664.5

p.S679_E680insFs

c.2037_2038insG

12 papers

NM_003664.5

p.E659*

c.1975G>T

4 papers

NM_003664.5

p.E681*

c.2041G>T

1 paper

NM_003664.5

p.A657P

c.1969G>C

1 paper

NM_003664.5

p.L656_A657Splc

c.1969-2A>C

1 paper

NM_003664.5

p.S685delFs

c.2054_2055delAG

1 paper

NM_003664.5

p.D687N

c.2059G>A