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.R435C

c.1303C>T

Surrounding Variants

1 paper

NM_001278512.2

p.R435H

c.1304G>A

1 paper

NM_001278512.2

p.R435R

c.1305C>A

1 paper

NM_001278512.2

p.R444H

c.1331G>A

1 paper

NM_001278512.2

p.E413E

c.1239A>G

2 papers

NM_001278512.2

p.R412W

c.1234C>T

1 paper

NM_001278512.2

p.A402A

c.1206C>A

1 paper

NM_001278512.2

p.N494K

c.1482C>G

1 paper

NM_001278512.2

p.N494K

c.1482C>A

1 paper

NM_001278512.2

p.A532E

c.1595C>A

1 paper

NM_001278512.2

p.D535H

c.1603G>C

1 paper

NM_001278512.2

p.K394N

c.1182G>T

1 paper

NM_001278512.2

p.K394N

c.1182G>C