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.K1014R

c.3041A>G

Surrounding Variants

2 papers

NM_199420.4

p.V1016F

c.3046G>T

1 paper

NM_199420.4

p.T1010A

c.3028A>G

1 paper

NM_199420.4

p.Q1021*

c.3061C>T

1 paper

NM_199420.4

p.Q1021K

c.3061C>A

3 papers

NM_199420.4

p.K1024_K1025del1

c.3072_3074delTTT

1 paper

NM_199420.4

p.A1026T

c.3076G>A

4 papers

NM_199420.4

p.K1025del1

c.3073_3074delCTT

1 paper

NM_199420.4

p.E999D

c.2997G>T

1 paper

NM_199420.4

p.E999D

c.2997G>C

1 paper

NM_199420.4

p.S1036N

c.3107G>A

1 paper

NM_199420.4

p.R1040L

c.3119G>T

1 paper

NM_199420.4

p.R1040Q

c.3119G>A