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

Selected Variant

1 paper

NM_133636.5

p.V503I

c.1507G>A

Surrounding Variants

1 paper

NM_133636.5

p.N502S

c.1505A>G

1 paper

NM_133636.5

p.K508E

c.1522A>G

1 paper

NM_133636.5

p.L510F

c.1528C>T

1 paper

NM_133636.5

p.I494I

c.1482T>C

1 paper

NM_133636.5

p.T490A

c.1468A>G

3 papers

NM_133636.5

p.E523K

c.1567G>A

1 paper

NM_133636.5

p.I534L

c.1600A>T

1 paper

NM_133636.5

p.V537A

c.1610T>C

1 paper

NM_133636.5

p.S539R

c.1615A>C

1 paper

NM_133636.5

p.S539R

c.1617C>G

1 paper

NM_133636.5

p.S539R

c.1617C>A

1 paper

NM_133636.5

p.E542K

c.1624G>A