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.D661E

c.1983C>G

Surrounding Variants

1 paper

NM_001261826.3

p.A660V

c.1979C>T

4 papers

NM_001261826.3

p.A660delFs

c.1978delC

3 papers

NM_001261826.3

p.A660fs

c.1978_1979fs

1 paper

NM_001261826.3

p.A666A

c.1998T>C

1 paper

NM_001261826.3

p.R667Q

c.2000G>A

1 paper

NM_001261826.3

p.R656W

c.1966C>T

2 papers

NM_001261826.3

p.R652R

c.1956T>C

1 paper

NM_001261826.3

p.R651Q

c.1952G>A

1 paper

NM_001261826.3

p.H646H

c.1938C>T

1 paper

NM_001261826.3

p.R642G

c.1924A>G

1 paper

NM_001261826.3

p.E637G

c.1910A>G

1 paper

NM_001261826.3

p.R667_R668Splc

c.2002-4A>G