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

7 papers

NM_002907.4

p.I156M

c.468T>G

Surrounding Variants

1 paper

NM_002907.4

p.L154L

c.460T>C

1 paper

NM_002907.4

p.V150_L151del2

c.448_452del6

1 paper

NM_002907.4

p.V150A

c.449T>C

2 papers

NM_002907.4

p.S165C

c.493A>T

1 paper

NM_002907.4

p.S165fs

c.493_494fs

2 papers

NM_002907.4

p.S166F

c.497C>T

2 papers

NM_002907.4

p.Q147*

c.439C>T

1 paper

NM_002907.4

p.S165_S166delFs

c.493_497del5

2 papers

NM_002907.4

p.K167_E168Splc

c.501+1G>A

1 paper

NM_002907.4

p.M144fs

c.430_431fs

1 paper

NM_002907.4

p.L143delFs

c.427_428delAG

4 papers

NM_002907.4

p.S142delFs

c.426delA