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.K2717R

c.8150A>G

Surrounding Variants

1 paper

NM_006904.7

p.G2718R

c.8152G>C

1 paper

NM_006904.7

p.V2712V

c.8136G>T

1 paper

NM_006904.7

p.V2712L

c.8134G>T

1 paper

NM_006904.7

p.G2709R

c.8125G>A

1 paper

NM_006904.7

p.G2706D

c.8117G>A

1 paper

NM_006904.7

p.G2706S

c.8116G>A

4 papers

NM_006904.7

p.R2704fs

c.8110_8111fs

7 papers

NM_006904.7

p.R2704delFs

c.8110delT

1 paper

NM_006904.7

p.R2704fs

c.8110_8111fs

1 paper

NM_006904.7

p.K2702E

c.8104A>G

1 paper

NM_006904.7

p.L2693W

c.8078T>G

1 paper

NM_006904.7

p.A2681A

c.8043C>T