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

2 papers

NM_014855.3

p.S687C

c.2060C>G

Surrounding Variants

2 papers

NM_014855.3

p.A689T

c.2065G>A

1 paper

NM_014855.3

p.R685C

c.2053C>T

1 paper

NM_014855.3

p.Q696insFs

c.2086dupC

1 paper

NM_014855.3

p.P694delFs

c.2080delC

1 paper

NM_014855.3

p.P694fs

c.2080_2081fs

1 paper

NM_014855.3

p.T699P

c.2095A>C

1 paper

NM_014855.3

p.V700M

c.2098G>A

1 paper

NM_014855.3

p.L701L

c.2101C>T

4 papers

NM_014855.3

p.L701P

c.2102T>C

2 papers

NM_014855.3

p.E672K

c.2014G>A

1 paper

NM_014855.3

p.F671F

c.2013C>T

6 papers

NM_014855.3

p.F670L

c.2010C>A