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.Q1689E

c.5065C>G

Surrounding Variants

1 paper

NM_199420.4

p.V1690G

c.5069T>G

2 papers

NM_199420.4

p.Q1691*

c.5071C>T

1 paper

NM_199420.4

p.S1696F

c.5087C>T

1 paper

NM_199420.4

p.V1681G

c.5042T>G

1 paper

NM_199420.4

p.E1678*

c.5032G>T

1 paper

NM_199420.4

p.V1701I

c.5101G>A

1 paper

NM_199420.4

p.N1672fs

c.5014_5015fs

1 paper

NM_199420.4

p.R1670K

c.5009G>A

1 paper

NM_199420.4

p.F1665F

c.4995T>C

1 paper

NM_199420.4

p.D1715fs

c.5143_5144fs

1 paper

NM_199420.4

p.D1715insFs

c.5143_5144ins5

1 paper

NM_199420.4

p.S1660L

c.4979C>T