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.S403delFs

c.1209delA

Surrounding Variants

1 paper

NM_133636.5

p.G409A

c.1226G>C

1 paper

NM_133636.5

p.E414*

c.1240G>T

1 paper

NM_133636.5

p.S432T

c.1294T>A

1 paper

NM_133636.5

p.T437A

c.1309A>G

1 paper

NM_133636.5

p.E450K

c.1348G>A

1 paper

NM_133636.5

p.G452E

c.1355G>A

2 papers

NM_133636.5

p.D463A

c.1388A>C

1 paper

NM_133636.5

p.R473H

c.1418G>A

1 paper

NM_133636.5

p.M479I

c.1437G>T

1 paper

NM_133636.5

p.M479I

c.1437G>C

1 paper

NM_133636.5

p.M479I

c.1437G>A

1 paper

NM_133636.5

p.I484T

c.1451T>C