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

6 papers

NM_014855.3

p.R27_I28delFs

c.80_83del4

Surrounding Variants

1 paper

NM_014855.3

p.R27G

c.79C>G

5 papers

NM_014855.3

p.R27fs

c.79_80fs

1 paper

NM_014855.3

p.R27_I28Fs

c.80_83delinsTGCTGTFs

1 paper

NM_014855.3

p.R27_I28delins

c.80_83delinsTGCTGTAAACTGTAACTGTAAA

1 paper

NM_014855.3

p.F24L

c.72C>A

1 paper

NM_014855.3

p.F24L

c.72C>G

1 paper

NM_014855.3

p.F24L

c.70T>C

1 paper

NM_014855.3

p.Q33*

c.97C>T

2 papers

NM_014855.3

p.E20V

c.59A>T

1 paper

NM_014855.3

p.Q33H

c.99G>C

1 paper

NM_014855.3

p.Q33H

c.99G>T

1 paper

NM_014855.3

p.A34V

c.101C>T