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.V3852D

c.11555T>A

Surrounding Variants

1 paper

NM_006904.7

p.V3852_G3853ins2

c.11556_11557ins6

1 paper

NM_006904.7

p.V3852L

c.11554G>C

1 paper

NM_006904.7

p.G3853R

c.11557G>C

1 paper

NM_006904.7

p.M3846I

c.11538G>T

1 paper

NM_006904.7

p.M3846I

c.11538G>C

1 paper

NM_006904.7

p.M3846I

c.11538G>A

1 paper

NM_006904.7

p.K3845delFs

c.11533delT

1 paper

NM_006904.7

p.M3858I

c.11574G>T

1 paper

NM_006904.7

p.M3858I

c.11574G>C

1 paper

NM_006904.7

p.M3858I

c.11574G>A

2 papers

NM_006904.7

p.T3844A

c.11530A>G

1 paper

NM_006904.7

p.P3836L

c.11507C>T