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.K819R

c.2456A>G

Surrounding Variants

1 paper

NM_133636.5

p.Y818_K819ins7

c.2452_2456ins21

1 paper

NM_133636.5

p.Q813delFs

c.2438delT

1 paper

NM_133636.5

p.Q813fs

c.2437_2438fs

1 paper

NM_133636.5

p.L806L

c.2418G>A

1 paper

NM_133636.5

p.I798V

c.2392A>G

2 papers

NM_133636.5

p.K765_I766Splc

c.2296-1G>C

2 papers

NM_133636.5

p.Y846*

c.2538T>G

1 paper

NM_133636.5

p.Y846*

c.2538T>A

1 paper

NM_133636.5

p.G860R

c.2578G>C

1 paper

NM_133636.5

p.G860R

c.2578G>A

1 paper

NM_133636.5

p.L869V

c.2605C>G

1 paper

NM_133636.5

p.P875S

c.2623C>T