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.N1301fs

c.3901_3902fs

Surrounding Variants

1 paper

NM_199420.4

p.T1303_N1305delFs

c.3908_3914del7

1 paper

NM_199420.4

p.T1303_N1305del3

c.3907_3914del9

1 paper

NM_199420.4

p.H1307R

c.3920A>G

1 paper

NM_199420.4

p.T1295insFs

c.3883_3884insA

1 paper

NM_199420.4

p.T1295fs

c.3883_3884fs

1 paper

NM_199420.4

p.Q1292delFs

c.3876delT

1 paper

NM_199420.4

p.S1289F

c.3866C>T

1 paper

NM_199420.4

p.S1289C

c.3866C>G

1 paper

NM_199420.4

p.F1322L

c.3964T>C

1 paper

NM_199420.4

p.F1322L

c.3966C>G

1 paper

NM_199420.4

p.F1322L

c.3966C>A

1 paper

NM_199420.4

p.G1280V

c.3839G>T