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.I437I

c.1311C>T

Surrounding Variants

1 paper

NM_001261826.3

p.A439T

c.1315G>A

1 paper

NM_001261826.3

p.A450T

c.1348G>A

1 paper

NM_001261826.3

p.I451I

c.1353C>T

1 paper

NM_001261826.3

p.R452H

c.1355G>A

3 papers

NM_001261826.3

p.A455T

c.1363G>A

1 paper

NM_001261826.3

p.S465G

c.1393A>G

1 paper

NM_001261826.3

p.T473A

c.1417A>G

1 paper

NM_001261826.3

p.G477R

c.1429G>C

1 paper

NM_001261826.3

p.E416K

c.1246G>A

1 paper

NM_001261826.3

p.A485V

c.1454C>T

5 papers

NM_001261826.3

p.Q406R

c.1217A>G

1 paper

NM_001261826.3

p.I403M

c.1209C>G