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

2 papers

NM_001278512.2

p.T196_L197Splc

c.588+1G>T

Surrounding Variants

1 paper

NM_001278512.2

p.L191R

c.572T>G

1 paper

NM_001278512.2

p.D230N

c.688G>A

1 paper

NM_001278512.2

p.T244T

c.732C>A

1 paper

NM_001278512.2

p.R248S

c.742C>A

1 paper

NM_001278512.2

p.T249T

c.747G>A

1 paper

NM_001278512.2

p.A168T

c.502G>A

1 paper

NM_001278512.2

p.R162Q

c.485G>A

1 paper

NM_001278512.2

p.S259F

c.776C>T

1 paper

NM_001278512.2

p.E152*

c.454G>T

1 paper

NM_001278512.2

p.A149_I150delFs

c.445_448del4

2 papers

NM_001278512.2

p.A149fs

c.445_446fs

1 paper

NM_001278512.2

p.V143L

c.427G>T