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.R748H

c.2243G>A

Surrounding Variants

1 paper

NM_014855.3

p.S740S

c.2220C>T

6 papers

NM_014855.3

p.T756I

c.2267C>T

1 paper

NM_014855.3

p.H739Q

c.2217C>A

1 paper

NM_014855.3

p.H739Q

c.2217C>G

1 paper

NM_014855.3

p.H739insFs

c.2216_2217insCA

1 paper

NM_014855.3

p.T735_H739del0

c.2205_2216del12

1 paper

NM_014855.3

p.T735_H739del5

c.2203_2216del15

7 papers

NM_014855.3

p.V763M

c.2287G>A

1 paper

NM_014855.3

p.L729fs

c.2185_2186fs

1 paper

NM_014855.3

p.T728delFs

c.2184delC

1 paper

NM_014855.3

p.T769A

c.2305A>G

1 paper

NM_014855.3

p.R718Splc

c.2154-1G>A