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

4 papers

NM_002907.4

p.K40_V41insFs

c.120_121insA

Surrounding Variants

4 papers

NM_002907.4

p.K40delFs

c.120delT

3 papers

NM_002907.4

p.V41fs

c.121_122fs

1 paper

NM_002907.4

p.K40fs

c.118_119fs

2 papers

NM_002907.4

p.V41fs

c.121_122fs

1 paper

NM_002907.4

p.K44K

c.132G>A

1 paper

NM_002907.4

p.K45fs

c.133_134fs

4 papers

NM_002907.4

p.K44_K45delFs

c.132_135del4

1 paper

NM_002907.4

p.Q48*

c.142C>T

1 paper

NM_002907.4

p.C49S

c.146G>C

1 paper

NM_002907.4

p.Q32*

c.94C>T

1 paper

NM_002907.4

p.R31R

c.93G>A

1 paper

NM_002907.4

p.E51*

c.151G>T