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.L332L

c.996G>A

Surrounding Variants

1 paper

NM_014855.3

p.V334A

c.1001T>C

2 papers

NM_014855.3

p.V334V

c.1002G>A

1 paper

NM_014855.3

p.R337Q

c.1010G>A

1 paper

NM_014855.3

p.V326fs

c.976_977fs

2 papers

NM_014855.3

p.P340L

c.1019C>T

1 paper

NM_014855.3

p.A323_C324Splc

c.970-4G>A

7 papers

NM_014855.3

p.R345*

c.1033C>T

2 papers

NM_014855.3

p.R345Q

c.1034G>A

1 paper

NM_014855.3

p.S348F

c.1043C>T

1 paper

NM_014855.3

p.H354H

c.1062C>T

1 paper

NM_014855.3

p.R356W

c.1066C>T

1 paper

NM_014855.3

p.G359R

c.1075G>A