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.W1632R

c.4894T>C

Surrounding Variants

1 paper

NM_006904.7

p.W1632R

c.4894T>A

1 paper

NM_006904.7

p.C1629S

c.4886G>C

1 paper

NM_006904.7

p.C1629S

c.4885T>A

1 paper

NM_006904.7

p.K1628M

c.4883A>T

2 papers

NM_006904.7

p.P1638A

c.4912C>G

1 paper

NM_006904.7

p.E1640K

c.4918G>A

1 paper

NM_006904.7

p.T1621A

c.4861A>G

1 paper

NM_006904.7

p.A1619G

c.4856C>G

4 papers

NM_006904.7

p.H1613R

c.4838A>G

1 paper

NM_006904.7

p.E1607K

c.4819G>A

1 paper

NM_006904.7

p.G1599D

c.4796G>A

1 paper

NM_006904.7

p.L1597F

c.4791G>T