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.Y1056fs

c.3166_3167fs

Surrounding Variants

1 paper

NM_004260.4

p.L1055_Y1056insFs

c.3165_3166insAC

1 paper

NM_004260.4

p.R1058G

c.3172C>G

2 papers

NM_004260.4

p.R1058H

c.3173G>A

1 paper

NM_004260.4

p.Q1050_D1053delFs

c.3149_3158del10

1 paper

NM_004260.4

p.Q1060*

c.3178C>T

1 paper

NM_004260.4

p.C1052fs

c.3154_3155fs

1 paper

NM_004260.4

p.C1052R

c.3154T>C

1 paper

NM_004260.4

p.Y1056_A1061delFs

c.3167_3182del16

8 papers

NM_004260.4

p.R1062W

c.3184C>T

1 paper

NM_004260.4

p.R1062Q

c.3185G>A

2 papers

NM_004260.4

p.I1051V

c.3151A>G

1 paper

NM_004260.4

p.R1062fs

c.3184_3185fs