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.N1236Y

c.3706A>T

Surrounding Variants

1 paper

NM_199420.4

p.N1232D

c.3694A>G

1 paper

NM_199420.4

p.S1231S

c.3693A>G

1 paper

NM_199420.4

p.S1224N

c.3671G>A

2 papers

NM_199420.4

p.D1257G

c.3770A>G

1 paper

NM_199420.4

p.I1259L

c.3775A>T

1 paper

NM_199420.4

p.I1259L

c.3775A>C

3 papers

NM_199420.4

p.V1268I

c.3802G>A

1 paper

NM_199420.4

p.Q1203P

c.3608A>C

6 papers

NM_199420.4

p.H1201R

c.3602A>G

1 paper

NM_199420.4

p.R1197*

c.3589C>T

1 paper

NM_199420.4

p.G1280V

c.3839G>T

1 paper

NM_199420.4

p.S1289F

c.3866C>T