Varaico: Literature-Extracted Genetic Variants

AP5Z1

300 papers

RefSeq Summary

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins t...

Pfam Domains

TPR_AP5Z1aa 1–279UCSCAP-5 complex subunit zeta-1, TPR repeats

SPG48aa 320–437UCSCAP-5 complex subunit, vesicle trafficking

TPR_AP5Z1_Caa 449–797UCSCAP-5 complex subunit zeta-1, C-terminal TPR repeats

Gene Aliases

HGNC Name

adaptor related protein complex 5 subunit zeta 1

HGNC Previous Symbol

KIAA0415

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014855.3

p.Q307H

c.921A>C

Surrounding Variants

1 paper

NM_014855.3

p.Q307H

c.921A>T

7 papers

NM_014855.3

p.S308T

c.923G>C

2 papers

NM_014855.3

p.R310*

c.928C>T

1 paper

NM_014855.3

p.R310Q

c.929G>A

2 papers

NM_014855.3

p.R311*

c.931C>T

1 paper

NM_014855.3

p.L304F

c.910C>T

1 paper

NM_014855.3

p.R303C

c.907C>T

1 paper

NM_014855.3

p.Y300F

c.899A>T

1 paper

NM_014855.3

p.E299Q

c.895G>C

1 paper

NM_014855.3

p.A297G

c.890C>G

4 papers

NM_014855.3

p.R294Q

c.881G>A

1 paper

NM_014855.3

p.R294W

c.880C>T