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.K391N

c.1173G>C

Surrounding Variants

1 paper

NM_001278512.2

p.K391N

c.1173G>T

1 paper

NM_001278512.2

p.I390S

c.1169T>G

1 paper

NM_001278512.2

p.K394N

c.1182G>T

1 paper

NM_001278512.2

p.K394N

c.1182G>C

1 paper

NM_001278512.2

p.K394K

c.1182G>A

1 paper

NM_001278512.2

p.R370_G371Splc

c.1110+1G>C

1 paper

NM_001278512.2

p.V339I

c.1015G>A

1 paper

NM_001278512.2

p.E336*

c.1006G>T

2 papers

NM_001278512.2

p.A335T

c.1003G>A

1 paper

NM_001278512.2

p.A319T

c.955G>A

1 paper

NM_001278512.2

p.Q314*

c.940C>T

2 papers

NM_001278512.2

p.K294T

c.881A>C