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

3 papers

NM_014855.3

p.L375Q

c.1124T>A

Surrounding Variants

2 papers

NM_014855.3

p.L375insFs

c.1125dupG

1 paper

NM_014855.3

p.H372H

c.1116C>T

3 papers

NM_014855.3

p.G378R

c.1132G>A

3 papers

NM_014855.3

p.G378R

c.1132G>C

1 paper

NM_014855.3

p.G378W

c.1132G>T

1 paper

NM_014855.3

p.A371T

c.1111G>A

1 paper

NM_014855.3

p.A362S

c.1084G>T

1 paper

NM_014855.3

p.D360E

c.1080C>G

1 paper

NM_014855.3

p.G359R

c.1075G>A

1 paper

NM_014855.3

p.G359R

c.1075G>C

1 paper

NM_014855.3

p.R356W

c.1066C>T

1 paper

NM_014855.3

p.H354H

c.1062C>T