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.E3085D

c.9255G>T

Surrounding Variants

2 papers

NM_006904.7

p.E3085D

c.9255G>C

1 paper

NM_006904.7

p.L3080R

c.9239T>G

1 paper

NM_006904.7

p.L3073F

c.9217C>T

1 paper

NM_006904.7

p.Q3108delFs

c.9322_9323delTG

24 papers

NM_006904.7

p.L3062R

c.9185T>G

1 paper

NM_006904.7

p.L3062P

c.9185T>C

2 papers

NM_006904.7

p.L3061R

c.9182T>G

1 paper

NM_006904.7

p.Q3037H

c.9111G>T

1 paper

NM_006904.7

p.Q3037H

c.9111G>C

1 paper

NM_006904.7

p.Y3036C

c.9107A>G

1 paper

NM_006904.7

p.L3027insFs

c.9080_9081insA

1 paper

NM_006904.7

p.P3024delFs

c.9071delG