Varaico: Literature-Extracted Genetic Variants

RECQL

254 papers

RefSeq Summary

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair a...

Pfam Domains

DEADaa 93–265UCSCDEAD/DEAH box helicase

Helicase_Caa 299–409UCSCHelicase conserved C-terminal domain

RecQ_Zn_bindaa 420–479UCSCRecQ zinc-binding

Gene Aliases

HGNC Name

RecQ like helicase

HGNC Alias Symbols

RecQ1; RecQL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002907.4

p.G56R

c.166G>A

Surrounding Variants

2 papers

NM_002907.4

p.G56R

c.166G>C

1 paper

NM_002907.4

p.A57S

c.169G>T

1 paper

NM_002907.4

p.D52E

c.156T>G

1 paper

NM_002907.4

p.D52E

c.156T>A

1 paper

NM_002907.4

p.E60*

c.178G>T

1 paper

NM_002907.4

p.L50_E51delFs

c.150_151delCT

1 paper

NM_002907.4

p.E51*

c.151G>T

1 paper

NM_002907.4

p.E51K

c.151G>A

1 paper

NM_002907.4

p.L50delFs

c.150delT

1 paper

NM_002907.4

p.E51fs

c.151_152fs

1 paper

NM_002907.4

p.C49S

c.146G>C

1 paper

NM_002907.4

p.S63A

c.187T>G