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

7 papers

NM_006904.7

p.P695S

c.2083C>T

Surrounding Variants

1 paper

NM_006904.7

p.P695fs

c.2083_2084fs

1 paper

NM_006904.7

p.P695delFs

c.2083delG

1 paper

NM_006904.7

p.S694C

c.2081C>G

1 paper

NM_006904.7

p.S687G

c.2059A>G

2 papers

NM_006904.7

p.F707L

c.2119T>C

1 paper

NM_006904.7

p.K712E

c.2134A>G

1 paper

NM_006904.7

p.E684D

c.2052G>C

1 paper

NM_006904.7

p.E684K

c.2050G>A

1 paper

NM_006904.7

p.F683L

c.2049C>G

1 paper

NM_006904.7

p.F683L

c.2049C>A

1 paper

NM_006904.7

p.F683L

c.2047T>C

1 paper

NM_006904.7

p.A677T

c.2029G>A