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.V549I

c.1645G>A

Surrounding Variants

1 paper

NM_001261826.3

p.A548A

c.1644C>T

1 paper

NM_001261826.3

p.R556Q

c.1667G>A

3 papers

NM_001261826.3

p.G541R

c.1621G>C

3 papers

NM_001261826.3

p.G541R

c.1621G>A

1 paper

NM_001261826.3

p.E538K

c.1612G>A

1 paper

NM_001261826.3

p.A531T

c.1591G>A

1 paper

NM_001261826.3

p.R508P

c.1523G>C

1 paper

NM_001261826.3

p.A572V

c.1715C>T

1 paper

NM_001261826.3

p.V579F

c.1735G>T

1 paper

NM_001261826.3

p.N605K

c.1815C>G

1 paper

NM_001261826.3

p.N605K

c.1815C>A

1 paper

NM_001261826.3

p.P618P

c.1854C>T