Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4

RECQL4

846 papers

RefSeq Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation....

Pfam Domains

Drc1-Sld2aa 4–155UCSCDNA replication and checkpoint protein
DEADaa 125–295UCSCDEAD/DEAH box helicase
Helicase_Caa 326–452UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RecQ like helicase 4

HGNC Alias Symbol

RecQ4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1432 variants
34 papers
NM_004260.4
p.C525delFs
c.1573delA
33 papers
NM_004260.4
p.Q757*
c.2269C>T
23 papers
NM_004260.4
p.E267D
c.801G>C
23 papers
NM_004260.4
p.R1005Q
c.3014G>A
22 papers
NM_004260.4
p.E267D
c.801G>T
20 papers
NM_004260.4
p.R350delFs
c.1048_1049delCT
18 papers
NM_004260.4
p.M1delFs
c.2delA
18 papers
NM_004260.4
p.S92P
c.274T>C
17 papers
NM_004260.4
p.R1021W
c.3061C>T
15 papers
NM_004260.4
p.E464Splc
c.1391-1G>A
15 papers
NM_004260.4
p.Q821_G822Splc
c.2464-1G>C
15 papers
NM_004260.4
p.R1021Q
c.3062G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."