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.E220Q

c.658G>C

Surrounding Variants

1 paper

NM_002907.4

p.H222Y

c.664C>T

11 papers

NM_002907.4

p.R215Q

c.644G>A

18 papers

NM_002907.4

p.R215*

c.643C>T

2 papers

NM_002907.4

p.S225_Q226insFs

c.675_676ins7

1 paper

NM_002907.4

p.Q226Fs

c.676delinsGATGTAGCATGTFs

1 paper

NM_002907.4

p.Q226insFs

c.677_678ins4

1 paper

NM_002907.4

p.Q226fs

c.676_677fs

1 paper

NM_002907.4

p.W227L

c.680G>T

1 paper

NM_002907.4

p.R211W

c.631A>T

3 papers

NM_002907.4

p.R211G

c.631A>G

1 paper

NM_002907.4

p.Y208insFs

c.622_623insTC

1 paper

NM_002907.4

p.D234Splc

c.700+1G>T