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.V646M

c.1936G>A

Surrounding Variants

1 paper

NM_014855.3

p.L642V

c.1924C>G

1 paper

NM_014855.3

p.N634_G635del0

c.1900_1905del6

2 papers

NM_014855.3

p.V646_V647Splc

c.1939-1G>A

1 paper

NM_014855.3

p.L618insFs

c.1852dupC

1 paper

NM_014855.3

p.K615K

c.1845A>G

3 papers

NM_014855.3

p.C612_T613insFs

c.1836_1839dup4

3 papers

NM_014855.3

p.S655L

c.1964C>T

3 papers

NM_014855.3

p.T663T

c.1989C>T

1 paper

NM_014855.3

p.I667F

c.1999A>T

6 papers

NM_014855.3

p.F670L

c.2008T>C

6 papers

NM_014855.3

p.F670L

c.2010C>A

7 papers

NM_014855.3

p.F670L

c.2010C>G