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

7 papers

NM_014855.3

p.Q578*

c.1732C>T

Surrounding Variants

1 paper

NM_014855.3

p.Q578P

c.1733A>C

1 paper

NM_014855.3

p.N577fs

c.1729_1730fs

1 paper

NM_014855.3

p.N577delFs

c.1730delA

2 papers

NM_014855.3

p.N577_Q578delFs

c.1730_1733del4

1 paper

NM_014855.3

p.L581insFs

c.1742_1743ins16

1 paper

NM_014855.3

p.L582M

c.1744C>A

2 papers

NM_014855.3

p.G573delFs

c.1719delG

1 paper

NM_014855.3

p.L583insFs

c.1748_1749ins13

1 paper

NM_014855.3

p.D572N

c.1714G>A

1 paper

NM_014855.3

p.R586K

c.1757G>A

1 paper

NM_014855.3

p.D588N

c.1762G>A

1 paper

NM_014855.3

p.P592S

c.1774C>T