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.P592L

c.1775C>T

Surrounding Variants

1 paper

NM_014855.3

p.P592S

c.1774C>T

1 paper

NM_014855.3

p.P594A

c.1780C>G

1 paper

NM_014855.3

p.Y596S

c.1787A>C

1 paper

NM_014855.3

p.D588N

c.1762G>A

1 paper

NM_014855.3

p.A597T

c.1789G>A

1 paper

NM_014855.3

p.R586K

c.1757G>A

1 paper

NM_014855.3

p.V600E

c.1799T>A

1 paper

NM_014855.3

p.L583insFs

c.1748_1749ins13

1 paper

NM_014855.3

p.L582M

c.1744C>A

1 paper

NM_014855.3

p.L581insFs

c.1742_1743ins16

1 paper

NM_014855.3

p.Q578P

c.1733A>C

7 papers

NM_014855.3

p.Q578*

c.1732C>T