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.K850K

c.2550A>G

Surrounding Variants

1 paper

NM_001261826.3

p.R856T

c.2567G>C

1 paper

NM_001261826.3

p.K858insFs

c.2572_2573ins41

1 paper

NM_001261826.3

p.K860N

c.2580G>T

1 paper

NM_001261826.3

p.K860N

c.2580G>C

1 paper

NM_001261826.3

p.K839N

c.2517G>T

1 paper

NM_001261826.3

p.K839N

c.2517G>C

1 paper

NM_001261826.3

p.K861_K862del0

c.2581_2586del6

1 paper

NM_001261826.3

p.E865_K866del0

c.2593_2598del6

2 papers

NM_001261826.3

p.V834I

c.2500G>A

1 paper

NM_001261826.3

p.K867_A868Splc

c.2601+1G>C

1 paper

NM_001261826.3

p.S827P

c.2479T>C

1 paper

NM_001261826.3

p.Q819*

c.2455C>T