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

1–12 of 348 variants

18 papers

NM_002907.4

p.R215*

c.643C>T

13 papers

NM_002907.4

p.S620*

c.1859C>G

11 papers

NM_002907.4

p.M1T

c.2T>C

11 papers

NM_002907.4

p.R215Q

c.644G>A

11 papers

NM_002907.4

p.Q266*

c.796C>T

10 papers

NM_002907.4

p.S620*

c.1859C>A

9 papers

NM_002907.4

p.R407*

c.1219C>T

9 papers

NM_002907.4

p.R455C

c.1363C>T

8 papers

NM_002907.4

p.M458K

c.1373T>A

7 papers

NM_002907.4

p.I156M

c.468T>G

7 papers

NM_002907.4

p.H461R

c.1382A>G

7 papers

NM_002907.4

p.Y492*

c.1476C>G