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

2 papers

NM_199420.4

p.H1545Q

c.4635C>A

Surrounding Variants

2 papers

NM_199420.4

p.H1545Q

c.4635C>G

6 papers

NM_199420.4

p.Q1546P

c.4637A>C

1 paper

NM_199420.4

p.T1549A

c.4645A>G

1 paper

NM_199420.4

p.S1536*

c.4607C>G

1 paper

NM_199420.4

p.S1536*

c.4607C>A

1 paper

NM_199420.4

p.S1559L

c.4676C>T

2 papers

NM_199420.4

p.D1562Y

c.4684G>T

2 papers

NM_199420.4

p.S1563F

c.4688C>T

1 paper

NM_199420.4

p.V1564L

c.4690G>C

1 paper

NM_199420.4

p.D1524G

c.4571A>G

1 paper

NM_199420.4

p.V1517L

c.4549G>T

1 paper

NM_199420.4

p.V1517L

c.4549G>C