Varaico: Literature-Extracted Genetic Variants

AP3D1

119 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-...

Pfam Domains

Adaptin_Naa 32–583UCSCAdaptin N terminal region

AP3D1aa 661–807UCSCAP-3 complex subunit delta-1

Mu_AP3aa 1045–1151UCSCAP3 Mu C-terminal domain

Mu_AP3aa 1095–1201UCSCAP3 Mu C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit delta 1

HGNC Alias Symbol

ADTD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001261826.3

p.R254Q

c.761G>A

Surrounding Variants

1 paper

NM_001261826.3

p.A247D

c.740C>A

3 papers

NM_001261826.3

p.I267L

c.799A>C

1 paper

NM_001261826.3

p.L244M

c.730C>A

1 paper

NM_001261826.3

p.R187W

c.559C>T

1 paper

NM_001261826.3

p.S180L

c.539C>T

2 papers

NM_001261826.3

p.M170T

c.509T>C

1 paper

NM_001261826.3

p.S274_L275insFs

c.822_825dup4

1 paper

NM_001261826.3

p.L276fs

c.826_827fs

2 papers

NM_001261826.3

p.A285V

c.854C>T

1 paper

NM_001261826.3

p.R145fs

c.433_434fs

1 paper

NM_001261826.3

p.D127delFs

c.380delT

1 paper

NM_001261826.3

p.S289S

c.867G>T