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.A876V

c.2627C>T

Surrounding Variants

1 paper

NM_199420.4

p.L878P

c.2633T>C

1 paper

NM_199420.4

p.V880E

c.2639T>A

1 paper

NM_199420.4

p.T871T

c.2613T>C

1 paper

NM_199420.4

p.D890N

c.2668G>A

6 papers

NM_199420.4

p.R860Q

c.2579G>A

1 paper

NM_199420.4

p.R860*

c.2578C>T

1 paper

NM_199420.4

p.G895V

c.2684G>T

2 papers

NM_199420.4

p.R857H

c.2570G>A

1 paper

NM_199420.4

p.R857C

c.2569C>T

5 papers

NM_199420.4

p.R856C

c.2566C>T

1 paper

NM_199420.4

p.E848*

c.2542G>T

1 paper

NM_199420.4

p.R843fs

c.2527_2528fs