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.K961_R963delFs

c.2883_2887del5

Surrounding Variants

2 papers

NM_199420.4

p.E964A

c.2891A>C

1 paper

NM_199420.4

p.S962fs

c.2884_2885fs

2 papers

NM_199420.4

p.S962G

c.2884A>G

1 paper

NM_199420.4

p.S968F

c.2903C>T

1 paper

NM_199420.4

p.P953_N954ins6

c.2857_2861ins18

1 paper

NM_199420.4

p.Q974H

c.2922G>T

1 paper

NM_199420.4

p.Q974H

c.2922G>C

1 paper

NM_199420.4

p.Y948fs

c.2842_2843fs

1 paper

NM_199420.4

p.Y948delFs

c.2843delT

9 papers

NM_199420.4

p.T982R

c.2945C>G

1 paper

NM_199420.4

p.T942I

c.2825C>T

1 paper

NM_199420.4

p.S930T

c.2788T>A