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

2 papers

NM_006904.7

p.T2609P

c.7825A>C

Surrounding Variants

12 papers

NM_006904.7

p.T2609A

c.7825A>G

3 papers

NM_006904.7

p.S2612A

c.7834T>G

1 paper

NM_006904.7

p.S2612T

c.7834T>A

1 paper

NM_006904.7

p.P2604L

c.7811C>T

1 paper

NM_006904.7

p.G2614D

c.7841G>A

1 paper

NM_006904.7

p.V2601I

c.7801G>A

1 paper

NM_006904.7

p.S2599N

c.7796G>A

1 paper

NM_006904.7

p.R2619C

c.7855C>T

1 paper

NM_006904.7

p.T2620A

c.7858A>G

1 paper

NM_006904.7

p.T2620N

c.7859C>A

1 paper

NM_006904.7

p.R2596H

c.7787G>A

1 paper

NM_006904.7

p.E2622*

c.7864G>T