Varaico: Literature-Extracted Genetic Variants

PRKDC

779 papers

RefSeq Summary

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The prote...

Pfam Domains

DNAPKcs_CC1-2aa 956–1759UCSCDNA-dependent protein kinase catalytic subunit, CC1/2

DNAPKcs_CC3aa 1816–2202UCSCDNA-dependent protein kinase catalytic subunit, CC3

DNAPKcs_CC5aa 2213–2898UCSCDNA-PKcs, CC5

FATaa 3023–3470UCSCFAT domain

PI3_PI4_kinaseaa 3747–4015UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 4097–4128UCSCFATC domain

Gene Aliases

HGNC Name

protein kinase, DNA-activated, catalytic subunit

HGNC Previous Symbols

HYRC; HYRC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006904.7

p.I851V

c.2551A>G

Surrounding Variants

1 paper

NM_006904.7

p.R854I

c.2561G>T

1 paper

NM_006904.7

p.A845T

c.2533G>A

1 paper

NM_006904.7

p.E844K

c.2530G>A

1 paper

NM_006904.7

p.L859I

c.2575C>A

1 paper

NM_006904.7

p.L862R

c.2585T>G

1 paper

NM_006904.7

p.G864G

c.2592A>G

1 paper

NM_006904.7

p.N867S

c.2600A>G

12 papers

NM_006904.7

p.L870H

c.2609T>A

1 paper

NM_006904.7

p.V873Splc

c.2618-2A>G

1 paper

NM_006904.7

p.T874A

c.2620A>G

1 paper

NM_006904.7

p.S876L

c.2627C>T

2 papers

NM_006904.7

p.D877H

c.2629G>C