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.F1840L

c.5518T>C

Surrounding Variants

1 paper

NM_199420.4

p.F1840L

c.5520C>G

1 paper

NM_199420.4

p.F1840L

c.5520C>A

1 paper

NM_199420.4

p.T1839A

c.5515A>G

1 paper

NM_199420.4

p.R1849fs

c.5545_5546fs

1 paper

NM_199420.4

p.S1819*

c.5456C>G

1 paper

NM_199420.4

p.S1819P

c.5455T>C

1 paper

NM_199420.4

p.T1863R

c.5588C>G

1 paper

NM_199420.4

p.Q1814delFs

c.5440_5441delTG

1 paper

NM_199420.4

p.Q1814fs

c.5440_5441fs

1 paper

NM_199420.4

p.Q1810H

c.5430G>T

1 paper

NM_199420.4

p.Q1810H

c.5430G>C

1 paper

NM_199420.4

p.S1872R

c.5614A>C