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.S876L

c.2627C>T

Surrounding Variants

2 papers

NM_006904.7

p.D877H

c.2629G>C

1 paper

NM_006904.7

p.T874A

c.2620A>G

1 paper

NM_006904.7

p.V873Splc

c.2618-2A>G

1 paper

NM_006904.7

p.K881R

c.2642A>G

3 papers

NM_006904.7

p.Y883N

c.2647T>A

7 papers

NM_006904.7

p.E889D

c.2667G>T

7 papers

NM_006904.7

p.E889D

c.2667G>C

1 paper

NM_006904.7

p.R891Q

c.2672G>A

2 papers

NM_006904.7

p.A895T

c.2683G>A

1 paper

NM_006904.7

p.A895V

c.2684C>T

1 paper

NM_006904.7

p.P897S

c.2689C>T

1 paper

NM_006904.7

p.R899K

c.2696G>A