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

Selected Variant

9 papers

NM_199420.4

p.Q2513R

c.7538A>G

Surrounding Variants

6 papers

NM_199420.4

p.Q2513*

c.7537C>T

1 paper

NM_199420.4

p.G2515Splc

c.7543+2T>A

1 paper

NM_199420.4

p.L2509P

c.7526T>C

1 paper

NM_199420.4

p.M2508I

c.7524G>T

1 paper

NM_199420.4

p.M2508I

c.7524G>C

1 paper

NM_199420.4

p.M2508I

c.7524G>A

1 paper

NM_199420.4

p.E2506G

c.7517A>G

3 papers

NM_199420.4

p.E2506*

c.7516G>T

1 paper

NM_199420.4

p.G2503V

c.7508G>T

2 papers

NM_199420.4

p.H2496fs

c.7486_7487fs

2 papers

NM_199420.4

p.H2496insFs

c.7486dupC

1 paper

NM_199420.4

p.H2496fs

c.7486_7487fs