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

5 papers

NM_199420.4

p.L1430fs

c.4288_4289fs

Surrounding Variants

4 papers

NM_199420.4

p.L1430insFs

c.4289_4290insT

7 papers

NM_199420.4

p.L1430*

c.4289T>G

7 papers

NM_199420.4

p.L1430*

c.4289T>A

1 paper

NM_199420.4

p.S1436A

c.4306T>G

12 papers

NM_199420.4

p.I1421_L1423delFs

c.4262_4268del7

9 papers

NM_199420.4

p.I1421fs

c.4261_4262fs

1 paper

NM_199420.4

p.I1421R

c.4262T>G

4 papers

NM_199420.4

p.I1421fs

c.4261_4262fs

1 paper

NM_199420.4

p.P1420S

c.4258C>T

1 paper

NM_199420.4

p.L1442*

c.4325T>G

1 paper

NM_199420.4

p.L1442*

c.4325T>A

1 paper

NM_199420.4

p.P1415L

c.4244C>T