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

1 paper

NM_199420.4

p.V2551D

c.7652T>A

Surrounding Variants

11 papers

NM_199420.4

p.A2547V

c.7640C>T

2 papers

NM_199420.4

p.E2541A

c.7622A>C

3 papers

NM_199420.4

p.D2540A

c.7619A>C

3 papers

NM_199420.4

p.L2538R

c.7613T>G

3 papers

NM_199420.4

p.L2538V

c.7612C>G

1 paper

NM_199420.4

p.Q2537H

c.7611A>T

1 paper

NM_199420.4

p.Q2537H

c.7611A>C

1 paper

NM_199420.4

p.R2518P

c.7553G>C

1 paper

NM_199420.4

p.S2517P

c.7549T>C

3 papers

NM_199420.4

p.V2554I

c.7660G>A

1 paper

NM_199420.4

p.Q2556fs

c.7666_7667fs

1 paper

NM_199420.4

p.Q2556*

c.7666C>T