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

2 papers

NM_001261826.3

p.I52I

c.156A>C

Surrounding Variants

1 paper

NM_001261826.3

p.T63T

c.189G>A

1 paper

NM_001261826.3

p.D41Fs

c.122delinsGGGGGGGGGGGGFs

1 paper

NM_001261826.3

p.I40Fs

c.118delinsGGGGGGGGFs

1 paper

NM_001261826.3

p.I36V

c.106A>G

1 paper

NM_001261826.3

p.A33V

c.98C>T

1 paper

NM_001261826.3

p.W74R

c.220T>C

1 paper

NM_001261826.3

p.W74R

c.220T>A

1 paper

NM_001261826.3

p.A76V

c.227C>T

1 paper

NM_001261826.3

p.A85V

c.254C>T

3 papers

NM_001261826.3

p.K91_R92Splc

c.273+1G>T

1 paper

NM_001261826.3

p.H103Y

c.307C>T

2 papers

NM_001261826.3

p.R117C

c.349C>T