Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_004260.4

p.D988_M989insA

c.2962_2966ins3

Surrounding Variants

1 paper

NM_004260.4

p.F987_D988insAA

c.2959_2963ins6

1 paper

NM_004260.4

p.S984_E986delFs

c.2952_2958del7

1 paper

NM_004260.4

p.M989R

c.2966T>G

4 papers

NM_004260.4

p.M989I

c.2967G>T

4 papers

NM_004260.4

p.M989I

c.2967G>C

4 papers

NM_004260.4

p.M989I

c.2967G>A

3 papers

NM_004260.4

p.V985M

c.2953G>A

1 paper

NM_004260.4

p.S984S

c.2952C>T

1 paper

NM_004260.4

p.M989_K991del3

c.2965_2972del9

1 paper

NM_004260.4

p.M996R

c.2987T>G

1 paper

NM_004260.4

p.M996T

c.2987T>C

1 paper

NM_004260.4

p.D994_M996delFs

c.2980_2986del7