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.M1507T

c.4520T>C

Surrounding Variants

1 paper

NM_199420.4

p.P1505fs

c.4513_4514fs

1 paper

NM_199420.4

p.L1504_P1505insFs

c.4512_4513ins4

1 paper

NM_199420.4

p.E1511D

c.4533A>T

1 paper

NM_199420.4

p.E1511D

c.4533A>C

1 paper

NM_199420.4

p.P1512H

c.4535C>A

1 paper

NM_199420.4

p.P1514fs

c.4540_4541fs

1 paper

NM_199420.4

p.L1499L

c.4495C>T

1 paper

NM_199420.4

p.P1514_S1515delFs

c.4541_4544del4

1 paper

NM_199420.4

p.V1517L

c.4549G>T

1 paper

NM_199420.4

p.V1517L

c.4549G>C

1 paper

NM_199420.4

p.D1524G

c.4571A>G

1 paper

NM_199420.4

p.S1486N

c.4457G>A