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

1–12 of 987 variants

24 papers

NM_006904.7

p.L3062R

c.9185T>G

12 papers

NM_006904.7

p.L870H

c.2609T>A

12 papers

NM_006904.7

p.T2609A

c.7825A>G

10 papers

NM_006904.7

p.I3434T

c.10301T>C

8 papers

NM_006904.7

p.A3574V

c.10721C>T

7 papers

NM_006904.7

p.P695S

c.2083C>T

7 papers

NM_006904.7

p.E889D

c.2667G>T

7 papers

NM_006904.7

p.E889D

c.2667G>C

7 papers

NM_006904.7

p.R2704delFs

c.8110delT

7 papers

NM_006904.7

p.K3753R

c.11258A>G

7 papers

NM_006904.7

p.D3922A

c.11765A>C

6 papers

NM_006904.7

p.L1707Q

c.5120T>A