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

9 papers

NM_014855.3

p.R138*

c.412C>T

Surrounding Variants

1 paper

NM_014855.3

p.A139fs

c.415_416fs

1 paper

NM_014855.3

p.G135G

c.405C>T

2 papers

NM_014855.3

p.R143Q

c.428G>A

1 paper

NM_014855.3

p.Q144R

c.431A>G

1 paper

NM_014855.3

p.R125R

c.375A>G

1 paper

NM_014855.3

p.D124A

c.371A>C

1 paper

NM_014855.3

p.L154F

c.460C>T

1 paper

NM_014855.3

p.P155S

c.463C>T

1 paper

NM_014855.3

p.M157V

c.469A>G

3 papers

NM_014855.3

p.V161M

c.481G>A

3 papers

NM_014855.3

p.S164G

c.490A>G

5 papers

NM_014855.3

p.T167N

c.500C>A