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.D41E

c.123C>A

Surrounding Variants

2 papers

NM_001278512.2

p.D41E

c.123C>G

1 paper

NM_001278512.2

p.S52Y

c.155C>A

5 papers

NM_001278512.2

p.R67*

c.199C>T

1 paper

NM_001278512.2

p.G68*

c.202G>T

1 paper

NM_001278512.2

p.E88_V89Splc

c.264+70G>A

1 paper

NM_001278512.2

p.Y96N

c.286T>A

1 paper

NM_001278512.2

p.Y96*

c.288C>G

1 paper

NM_001278512.2

p.V98I

c.292G>A

1 paper

NM_001278512.2

p.R99H

c.296G>A

1 paper

NM_001278512.2

p.D106N

c.316G>A

1 paper

NM_001278512.2

p.S136fs

c.406_407fs

1 paper

NM_001278512.2

p.S136Fs

c.407delinsAAFs