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.I1134L

c.3400A>C

Surrounding Variants

1 paper

NM_001261826.3

p.I1134V

c.3400A>G

1 paper

NM_001261826.3

p.K1122M

c.3365A>T

1 paper

NM_001261826.3

p.K1122E

c.3364A>G

1 paper

NM_001261826.3

p.V1162V

c.3486G>A

2 papers

NM_001261826.3

p.S1072G

c.3214A>G

1 paper

NM_001261826.3

p.N1062N

c.3186C>T

1 paper

NM_001261826.3

p.V1050I

c.3148G>A

1 paper

NM_001261826.3

p.S1045S

c.3135C>T

2 papers

NM_001261826.3

p.S1045F

c.3134C>T

1 paper

NM_001261826.3

p.L987L

c.2961C>T

1 paper

NM_001261826.3

p.S983S

c.2949C>T

1 paper

NM_001261826.3

p.P979_P980Splc

c.2938-8A>C