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

2 papers

NM_014855.3

p.P445L

c.1334C>T

Surrounding Variants

1 paper

NM_014855.3

p.T447P

c.1339A>C

8 papers

NM_014855.3

p.W441*

c.1323G>A

10 papers

NM_014855.3

p.W441*

c.1322G>A

2 papers

NM_014855.3

p.W441delFs

c.1323delG

1 paper

NM_014855.3

p.F450S

c.1349T>C

1 paper

NM_014855.3

p.A452V

c.1355C>T

1 paper

NM_014855.3

p.K437_F438Splc

c.1312-2A>G

6 papers

NM_014855.3

p.P455L

c.1364C>T

1 paper

NM_014855.3

p.A456T

c.1366G>A

1 paper

NM_014855.3

p.A469G

c.1406C>G

2 papers

NM_014855.3

p.L471_L476delFs

c.1413_1426del14

1 paper

NM_014855.3

p.P474_Q483del0

c.1421_1447del27