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.F1074L

c.3222C>A

Surrounding Variants

1 paper

NM_004260.4

p.F1074L

c.3222C>G

1 paper

NM_004260.4

p.F1074L

c.3220T>C

1 paper

NM_004260.4

p.Q1075insFs

c.3224_3225ins8

1 paper

NM_004260.4

p.A1076V

c.3227C>T

1 paper

NM_004260.4

p.A1076D

c.3227C>A

1 paper

NM_004260.4

p.T1073P

c.3217A>C

6 papers

NM_004260.4

p.R1072*

c.3214A>T

1 paper

NM_004260.4

p.R1071H

c.3212G>A

2 papers

NM_004260.4

p.R1071C

c.3211C>T

1 paper

NM_004260.4

p.L1070P

c.3209T>C

1 paper

NM_004260.4

p.L1070Q

c.3209T>A

4 papers

NM_004260.4

p.S1079I

c.3236G>T