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.T281K

c.842C>A

Surrounding Variants

1 paper

NM_133636.5

p.K278T

c.833A>C

1 paper

NM_133636.5

p.M273insFs

c.818_819ins7

1 paper

NM_133636.5

p.M273fs

c.817_818fs

1 paper

NM_133636.5

p.D267V

c.800A>T

1 paper

NM_133636.5

p.S296C

c.887C>G

1 paper

NM_133636.5

p.K266E

c.796A>G

1 paper

NM_133636.5

p.E298*

c.892G>T

1 paper

NM_133636.5

p.S257P

c.769T>C

13 papers

NM_133636.5

p.V306I

c.916G>A

1 paper

NM_133636.5

p.P315T

c.943C>A

1 paper

NM_133636.5

p.N246Y

c.736A>T

1 paper

NM_133636.5

p.Q245*

c.733C>T