Varaico: Literature-Extracted Genetic Variants

AP3B2

97 papers

RefSeq Summary

Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subuni...

Pfam Domains

Adaptin_Naa 34–132UCSCAdaptin N terminal region

Adaptin_Naa 34–590UCSCAdaptin N terminal region

AP3B1_Caa 802–947UCSCClathrin-adaptor complex-3 beta-1 subunit C-terminal

AP3B1_C_2aa 969–1080UCSCAP-3 complex subunit beta-1, C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit beta 2

HGNC Alias Symbol

NAPTB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004644.5

p.R958*

c.2872C>T

Surrounding Variants

1 paper

NM_001278512.2

p.Q978E

c.2932C>G

1 paper

NM_001278512.2

p.V987I

c.2959G>A

3 papers

NM_001278512.2

p.P993fs

c.2977_2978fs

2 papers

NM_001278512.2

p.P993delFs

c.2978_2979delAG

1 paper

NM_001278512.2

p.E998G

c.2993A>G

1 paper

NM_001278512.2

p.E1000K

c.2998G>A

1 paper

NM_001278512.2

p.S946T

c.2836T>A

1 paper

NM_001278512.2

p.S902insFs

c.2705_2706dupCC

1 paper

NM_001278512.2

p.D893E

c.2679C>G

1 paper

NM_001278512.2

p.D893E

c.2679C>A

1 paper

NM_001278512.2

p.E888K

c.2662G>A

2 papers

NM_001278512.2

p.E880G

c.2639A>G