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.A776V

c.2327C>T

Surrounding Variants

1 paper

NM_001278512.2

p.E736Q

c.2206G>C

1 paper

NM_001278512.2

p.S730C

c.2189C>G

1 paper

NM_001278512.2

p.S720L

c.2159C>T

1 paper

NM_004644.5

p.L841fs

c.2521_2522fs

1 paper

NM_004644.5

p.L841_T842delFs

c.2522_2525del4

1 paper

NM_001278512.2

p.S709S

c.2127C>T

1 paper

NM_001278512.2

p.E708E

c.2124G>A

1 paper

NM_001278512.2

p.V873I

c.2617G>A

1 paper

NM_001278512.2

p.K682N

c.2046G>C

2 papers

NM_001278512.2

p.E880G

c.2639A>G

1 paper

NM_001278512.2

p.E676_V677Splc

c.2029-2A>G

1 paper

NM_001278512.2

p.E888K

c.2662G>A