Varaico: Literature-Extracted Genetic Variants

POLQ

3q13.33 (UCSC)OMIM GTEx

428 papers

Pfam Domains

DEADaa 95–274UCSCDEAD/DEAH box helicase

Helicase_Caa 380–485UCSCHelicase conserved C-terminal domain

HTH_61aa 490–596UCSCHelix-turn-helix domain

POLQ_helicalaa 625–785UCSCDNA_pol_Q helicase like region helical domain

DUF7898aa 791–865UCSCDomain of unknown function (DUF7898)

DNA_pol_Aaa 2096–2584UCSCDNA polymerase family A

Gene Aliases

HGNC Name

DNA polymerase theta

HGNC Previous Names

polymerase (DNA directed), theta; polymerase (DNA) theta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 619 variants

12 papers

NM_199420.4

p.I1421_L1423delFs

c.4262_4268del7

11 papers

NM_199420.4

p.A2547V

c.7640C>T

9 papers

NM_199420.4

p.T982R

c.2945C>G

9 papers

NM_199420.4

p.I1421fs

c.4261_4262fs

9 papers

NM_199420.4

p.Q2513R

c.7538A>G

7 papers

NM_199420.4

p.L1430*

c.4289T>G

7 papers

NM_199420.4

p.L1430*

c.4289T>A

6 papers

NM_199420.4

p.R860Q

c.2579G>A

6 papers

NM_199420.4

p.H1201R

c.3602A>G

6 papers

NM_199420.4

p.Q1546P

c.4637A>C

6 papers

NM_199420.4

p.Q2513*

c.7537C>T

5 papers

NM_199420.4

p.R66I

c.197G>T