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

1 paper

NM_002907.4

p.S608C

c.1823C>G

Surrounding Variants

1 paper

NM_002907.4

p.G611V

c.1832G>T

1 paper

NM_002907.4

p.T605N

c.1814C>A

2 papers

NM_002907.4

p.S602L

c.1805C>T

1 paper

NM_002907.4

p.M615fs

c.1843_1844fs

2 papers

NM_002907.4

p.K614_M615insFs

c.1841_1844dup4

1 paper

NM_002907.4

p.R599_A600Splc

c.1798-2A>T

13 papers

NM_002907.4

p.S620*

c.1859C>G

10 papers

NM_002907.4

p.S620*

c.1859C>A

1 paper

NM_002907.4

p.N622_F623insTC

c.1864_1868ins6

1 paper

NM_002907.4

p.Q624*

c.1870C>T

1 paper

NM_002907.4

p.N629K

c.1887C>G

1 paper

NM_002907.4

p.N629K

c.1887C>A