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.L47P

c.140T>C

Surrounding Variants

1 paper

NM_003664.5

p.E45*

c.133G>T

1 paper

NM_003664.5

p.E52K

c.154G>A

3 papers

NM_003664.5

p.E52fs

c.154_155fs

4 papers

NM_003664.5

p.E52_S53delFs

c.155_158del4

1 paper

NM_003664.5

p.D56G

c.167A>G

4 papers

NM_003664.5

p.K59fs

c.175_176fs

2 papers

NM_003664.5

p.K59fs

c.175_176fs

7 papers

NM_003664.5

p.K59delFs

c.177delT

1 paper

NM_003664.5

p.A62A

c.186T>G

3 papers

NM_003664.5

p.M63K

c.188T>A

1 paper

NM_003664.5

p.K64N

c.192G>C

1 paper

NM_003664.5

p.R65W

c.193C>T