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.P29R

c.86C>G

Surrounding Variants

4 papers

NM_133636.5

p.V35E

c.104T>A

1 paper

NM_133636.5

p.G23W

c.67G>T

1 paper

NM_133636.5

p.P36S

c.106C>T

1 paper

NM_133636.5

p.P36P

c.108C>G

2 papers

NM_133636.5

p.N18S

c.53A>G

1 paper

NM_133636.5

p.K16I

c.47A>T

1 paper

NM_133636.5

p.K16R

c.47A>G

1 paper

NM_133636.5

p.E44K

c.130G>A

1 paper

NM_133636.5

p.E44D

c.132G>T

1 paper

NM_133636.5

p.E44D

c.132G>C

1 paper

NM_133636.5

p.E45Q

c.133G>C

1 paper

NM_133636.5

p.R11L

c.32G>T