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

8 papers

NM_006904.7

p.A3574V

c.10721C>T

Surrounding Variants

1 paper

NM_006904.7

p.V3567M

c.10699G>A

2 papers

NM_006904.7

p.L3584F

c.10750C>T

5 papers

NM_006904.7

p.L3562M

c.10684T>A

1 paper

NM_006904.7

p.D3591Y

c.10771G>T

1 paper

NM_006904.7

p.T3599I

c.10796C>T

2 papers

NM_006904.7

p.N3605fs

c.10813_10814fs

2 papers

NM_006904.7

p.N3605S

c.10814A>G

2 papers

NM_006904.7

p.N3605fs

c.10813_10814fs

1 paper

NM_006904.7

p.K3604insFs

c.10811dupA

3 papers

NM_006904.7

p.N3605delFs

c.10814delT

1 paper

NM_006904.7

p.M3609delFs

c.10825delT

1 paper

NM_006904.7

p.M3609fs

c.10825_10826fs