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

2 papers

NM_006904.7

p.T3869M

c.11606C>T

Surrounding Variants

1 paper

NM_006904.7

p.S3876N

c.11627G>A

1 paper

NM_006904.7

p.G3861S

c.11581G>A

3 papers

NM_006904.7

p.L3900V

c.11698C>G

7 papers

NM_006904.7

p.D3922A

c.11765A>C

1 paper

NM_006904.7

p.M3858I

c.11574G>T

1 paper

NM_006904.7

p.M3858I

c.11574G>C

1 paper

NM_006904.7

p.M3858I

c.11574G>A

1 paper

NM_006904.7

p.N3927fs

c.11779_11780fs

1 paper

NM_006904.7

p.G3853R

c.11557G>C

1 paper

NM_006904.7

p.V3852_G3853ins2

c.11556_11557ins6

1 paper

NM_006904.7

p.V3852D

c.11555T>A

1 paper

NM_006904.7

p.V3852L

c.11554G>C