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.Y593F

c.1778A>T

Surrounding Variants

1 paper

NM_003664.5

p.K592N

c.1776A>T

1 paper

NM_003664.5

p.K592*

c.1774A>T

1 paper

NM_003664.5

p.I597insFs

c.1789_1790insC

4 papers

NM_003664.5

p.I597fs

c.1789_1790fs

3 papers

NM_003664.5

p.I597insFs

c.1789dupA

1 paper

NM_003664.5

p.I597delFs

c.1790delA

3 papers

NM_003664.5

p.V585delFs

c.1754delA

12 papers

NM_003664.5

p.V585E

c.1754T>A

3 papers

NM_003664.5

p.V585fs

c.1753_1754fs

1 paper

NM_003664.5

p.P605Q

c.1814C>A

1 paper

NM_003664.5

p.P605P

c.1815A>G

14 papers

NM_003664.5

p.L580R

c.1739T>G