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.S177G

c.529A>G

Surrounding Variants

1 paper

NM_014855.3

p.L175M

c.523C>A

1 paper

NM_014855.3

p.R179W

c.535C>T

1 paper

NM_014855.3

p.Q172H

c.516G>T

1 paper

NM_014855.3

p.Q172K

c.514C>A

1 paper

NM_014855.3

p.A187T

c.559G>A

1 paper

NM_014855.3

p.Q190H

c.570G>C

1 paper

NM_014855.3

p.Q190H

c.570G>T

1 paper

NM_014855.3

p.H195R

c.584A>G

2 papers

NM_014855.3

p.S196S

c.588C>A

2 papers

NM_014855.3

p.G197D

c.590G>A

1 paper

NM_014855.3

p.A205A

c.615C>T

7 papers

NM_014855.3

p.R206W

c.616C>T