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

1–12 of 103 variants

5 papers

NM_001278512.2

p.R67*

c.199C>T

3 papers

NM_001278512.2

p.E613fs

c.1837_1838fs

3 papers

NM_001278512.2

p.E613delFs

c.1837delC

3 papers

NM_001278512.2

p.P993fs

c.2977_2978fs

2 papers

NM_001278512.2

p.D41E

c.123C>G

2 papers

NM_001278512.2

p.D41E

c.123C>A

2 papers

NM_001278512.2

p.A149fs

c.445_446fs

2 papers

NM_001278512.2

p.T196_L197Splc

c.588+1G>T

2 papers

NM_001278512.2

p.K294T

c.881A>C

2 papers

NM_001278512.2

p.A335T

c.1003G>A

2 papers

NM_001278512.2

p.R412W

c.1234C>T

2 papers

NM_001278512.2

p.R580H

c.1739G>A