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

1–12 of 286 variants

10 papers

NM_014855.3

p.W441*

c.1322G>A

9 papers

NM_014855.3

p.R138*

c.412C>T

8 papers

NM_014855.3

p.W441*

c.1323G>A

7 papers

NM_014855.3

p.T55M

c.164C>T

7 papers

NM_014855.3

p.R206W

c.616C>T

7 papers

NM_014855.3

p.R292W

c.874C>T

7 papers

NM_014855.3

p.S308T

c.923G>C

7 papers

NM_014855.3

p.R345*

c.1033C>T

7 papers

NM_014855.3

p.Q578*

c.1732C>T

7 papers

NM_014855.3

p.F670L

c.2010C>G

7 papers

NM_014855.3

p.V763M

c.2287G>A

6 papers

NM_014855.3

p.R27_I28delFs

c.80_83del4