Varaico: Literature-Extracted Genetic Variants

HELQ

119 papers

RefSeq Summary

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008].

Pfam Domains

DEADaa 339–506UCSCDEAD/DEAH box helicase

Helicase_Caa 595–712UCSCHelicase conserved C-terminal domain

HTH_61aa 717–813UCSCHelix-turn-helix domain

POLQ_helicalaa 848–1002UCSCDNA_pol_Q helicase like region helical domain

Gene Aliases

HGNC Name

helicase, POLQ like

HGNC Alias Symbol

Hel308

Papers

RefSeq ID

Protein change

DNA change

1–12 of 142 variants

13 papers

NM_133636.5

p.V306I

c.916G>A

5 papers

NM_133636.5

p.Y1032delFs

c.3095delT

4 papers

NM_133636.5

p.V35E

c.104T>A

3 papers

NM_133636.5

p.E523K

c.1567G>A

2 papers

NM_133636.5

p.N18S

c.53A>G

2 papers

NM_133636.5

p.D463A

c.1388A>C

2 papers

NM_133636.5

p.K765_I766Splc

c.2296-1G>C

2 papers

NM_133636.5

p.Y846*

c.2538T>G

2 papers

NM_133636.5

p.Q892_F893Splc

c.2677-1G>A

2 papers

NM_133636.5

p.C982F

c.2945G>T

2 papers

NM_133636.5

p.R1048K

c.3143G>A

1 paper

NM_133636.5

p.R7R

c.21C>A