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

1–12 of 140 variants

5 papers

NM_001261826.3

p.Q406R

c.1217A>G

4 papers

NM_001261826.3

p.A660delFs

c.1978delC

3 papers

NM_001261826.3

p.K91_R92Splc

c.273+1G>T

3 papers

NM_001261826.3

p.I267L

c.799A>C

3 papers

NM_001261826.3

p.A455T

c.1363G>A

3 papers

NM_001261826.3

p.G541R

c.1621G>C

3 papers

NM_001261826.3

p.G541R

c.1621G>A

3 papers

NM_001261826.3

p.A660fs

c.1978_1979fs

3 papers

NM_001261826.3

p.V1189delFs

c.3565_3566delAC

2 papers

NM_001261826.3

p.I52I

c.156A>C

2 papers

NM_001261826.3

p.R117C

c.349C>T

2 papers

NM_001261826.3

p.M170T

c.509T>C