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.S1094*

c.3281C>A

Surrounding Variants

1 paper

NM_199420.4

p.S1094*

c.3281C>G

1 paper

NM_199420.4

p.K1108E

c.3322A>G

1 paper

NM_199420.4

p.L1072delFs

c.3214_3215delAG

1 paper

NM_199420.4

p.L1072fs

c.3214_3215fs

1 paper

NM_199420.4

p.K1119N

c.3357G>T

1 paper

NM_199420.4

p.K1119N

c.3357G>C

1 paper

NM_199420.4

p.L1067fs

c.3199_3200fs

2 papers

NM_199420.4

p.C1122F

c.3365G>T

1 paper

NM_199420.4

p.T1127I

c.3380C>T

1 paper

NM_199420.4

p.T1129fs

c.3385_3386fs

1 paper

NM_199420.4

p.N1130Y

c.3388A>T

2 papers

NM_199420.4

p.N1130_D1131ins8

c.3388_3392ins24