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.N1179H

c.3535A>C

Surrounding Variants

1 paper

NM_199420.4

p.Q1174*

c.3520C>T

1 paper

NM_199420.4

p.I1168fs

c.3502_3503fs

1 paper

NM_199420.4

p.E1166K

c.3496G>A

1 paper

NM_199420.4

p.E1164E

c.3492G>A

1 paper

NM_199420.4

p.R1197*

c.3589C>T

1 paper

NM_199420.4

p.E1156_K1157del2

c.3466_3470del6

6 papers

NM_199420.4

p.H1201R

c.3602A>G

1 paper

NM_199420.4

p.Q1203P

c.3608A>C

1 paper

NM_199420.4

p.T1151A

c.3451A>G

1 paper

NM_199420.4

p.T1147I

c.3440C>T

1 paper

NM_199420.4

p.S1224N

c.3671G>A

1 paper

NM_199420.4

p.T1129_N1130delFs

c.3386_3389del4