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_001278512.2

p.R654C

c.1960C>T

Surrounding Variants

1 paper

NM_001278512.2

p.E657E

c.1971G>A

1 paper

NM_001278512.2

p.P649T

c.1945C>A

1 paper

NM_001278512.2

p.A633V

c.1898C>T

1 paper

NM_001278512.2

p.R619R

c.1855C>A

1 paper

NM_001278512.2

p.E657_E658Splc

c.1972-2A>G

1 paper

NM_001278512.2

p.L663F

c.1987C>T

1 paper

NM_001278512.2

p.E676_V677Splc

c.2029-2A>G

1 paper

NM_001278512.2

p.K682N

c.2046G>C

1 paper

NM_001278512.2

p.E708E

c.2124G>A

1 paper

NM_001278512.2

p.S709S

c.2127C>T

1 paper

NM_001278512.2

p.S720L

c.2159C>T

1 paper

NM_001278512.2

p.S730C

c.2189C>G