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.S648*

c.1943C>A

Surrounding Variants

1 paper

NM_006904.7

p.S648*

c.1943C>G

3 papers

NM_006904.7

p.F649L

c.1945T>C

2 papers

NM_006904.7

p.F649L

c.1947T>G

2 papers

NM_006904.7

p.F649L

c.1947T>A

1 paper

NM_006904.7

p.S650L

c.1949C>T

1 paper

NM_006904.7

p.V646M

c.1936G>A

1 paper

NM_006904.7

p.Y651F

c.1952A>T

1 paper

NM_006904.7

p.P644L

c.1931C>T

1 paper

NM_006904.7

p.E640*

c.1918G>T

1 paper

NM_006904.7

p.L655_S657delFs

c.1965_1969del5

1 paper

NM_006904.7

p.Q638_A639insA

c.1912_1916ins3

1 paper

NM_006904.7

p.P661P

c.1983C>T