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.K600R

c.1799A>G

Surrounding Variants

1 paper

NM_001278512.2

p.K601R

c.1802A>G

1 paper

NM_001278512.2

p.L595I

c.1783C>A

3 papers

NM_001278512.2

p.E613fs

c.1837_1838fs

3 papers

NM_001278512.2

p.E613delFs

c.1837delC

1 paper

NM_001278512.2

p.T582N

c.1745C>A

2 papers

NM_001278512.2

p.R580H

c.1739G>A

1 paper

NM_001278512.2

p.R576R

c.1728C>T

1 paper

NM_001278512.2

p.Q571R

c.1712A>G

1 paper

NM_001278512.2

p.A567T

c.1699G>A

1 paper

NM_001278512.2

p.R619R

c.1855C>A

1 paper

NM_001278512.2

p.A633V

c.1898C>T

1 paper

NM_001278512.2

p.P649T

c.1945C>A