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

11 papers

NM_002907.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002907.4

p.M1I

c.3G>A

1 paper

NM_002907.4

p.M1delFs

c.2delA

1 paper

NM_002907.4

p.A2T

c.4G>A

1 paper

NM_002907.4

p.A2insFs

c.4dupG

1 paper

NM_002907.4

p.A2A

c.6G>T

1 paper

NM_002907.4

p.S3S

c.9C>T

1 paper

NM_002907.4

p.S5L

c.14C>T

1 paper

NM_002907.4

p.A6Splc

c.16+1G>A

1 paper

NM_002907.4

p.L7L

c.21A>G

2 papers

NM_002907.4

p.E17K

c.49G>A

1 paper

NM_002907.4

p.L18delFs

c.53delA

2 papers

NM_002907.4

p.H19R

c.56A>G