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.N3459S

c.10376A>G

Surrounding Variants

1 paper

NM_006904.7

p.N3459I

c.10376A>T

1 paper

NM_006904.7

p.E3448G

c.10343A>G

1 paper

NM_006904.7

p.I3472T

c.10415T>C

1 paper

NM_006904.7

p.P3443fs

c.10327_10328fs

1 paper

NM_006904.7

p.E3477G

c.10430A>G

1 paper

NM_006904.7

p.Q3440L

c.10319A>T

1 paper

NM_006904.7

p.A3437P

c.10309G>C

10 papers

NM_006904.7

p.I3434T

c.10301T>C

2 papers

NM_006904.7

p.V3433A

c.10298T>C

1 paper

NM_006904.7

p.E3427*

c.10279G>T

1 paper

NM_006904.7

p.L3424M

c.10270C>A

1 paper

NM_006904.7

p.Y3413C

c.10238A>G