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.A3785_L3786insC

c.11353_11357ins3

Surrounding Variants

1 paper

NM_006904.7

p.L3786L

c.11356C>T

1 paper

NM_006904.7

p.Q3787Q

c.11361G>A

1 paper

NM_006904.7

p.S3779F

c.11336C>T

2 papers

NM_006904.7

p.V3793I

c.11377G>A

1 paper

NM_006904.7

p.R3763L

c.11288G>T

7 papers

NM_006904.7

p.K3753R

c.11258A>G

1 paper

NM_006904.7

p.A3730_S3731insC

c.11188_11192ins3

1 paper

NM_006904.7

p.M3729_A3730insG

c.11185_11189ins3

1 paper

NM_006904.7

p.L3800S

c.11399T>C

2 papers

NM_006904.7

p.V3728_M3729insC

c.11182_11186ins3

1 paper

NM_006904.7

p.A3826T

c.11476G>A

1 paper

NM_006904.7

p.A3826E

c.11477C>A