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.A1692P

c.5074G>C

Surrounding Variants

6 papers

NM_006904.7

p.L1707Q

c.5120T>A

1 paper

NM_006904.7

p.R1712C

c.5134C>T

1 paper

NM_006904.7

p.N1737D

c.5209A>G

1 paper

NM_006904.7

p.S1677T

c.5030G>C

1 paper

NM_006904.7

p.L1750*

c.5249T>A

1 paper

NM_006904.7

p.G1666S

c.4996G>A

1 paper

NM_006904.7

p.N1662H

c.4984A>C

1 paper

NM_006904.7

p.Q1770E

c.5308C>G

1 paper

NM_006904.7

p.A1786V

c.5357C>T

1 paper

NM_006904.7

p.E1640K

c.4918G>A

2 papers

NM_006904.7

p.P1638A

c.4912C>G

1 paper

NM_006904.7

p.W1632R

c.4894T>C