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.Q965insFs

c.2894dupA

Surrounding Variants

1 paper

NM_133636.5

p.R961Q

c.2882G>A

1 paper

NM_133636.5

p.F957fs

c.2869_2870fs

2 papers

NM_133636.5

p.C982F

c.2945G>T

1 paper

NM_133636.5

p.E986K

c.2956G>A

1 paper

NM_133636.5

p.E1009D

c.3027A>T

1 paper

NM_133636.5

p.E1009D

c.3027A>C

1 paper

NM_133636.5

p.T1017_G1018insFs

c.3051_3052insA

1 paper

NM_133636.5

p.G1018V

c.3053G>T

1 paper

NM_133636.5

p.V1019G

c.3056T>G

1 paper

NM_133636.5

p.G920D

c.2759G>A

2 papers

NM_133636.5

p.Q892_F893Splc

c.2677-1G>A

1 paper

NM_133636.5

p.Y1032fs

c.3094_3095fs