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.E999K

c.2995G>A

Surrounding Variants

4 papers

NM_004260.4

p.W998*

c.2994G>A

1 paper

NM_004260.4

p.W998S

c.2993G>C

4 papers

NM_004260.4

p.W998*

c.2993G>A

1 paper

NM_004260.4

p.G997C

c.2989G>T

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

3 papers

NM_004260.4

p.V1003fs

c.3007_3008fs

1 paper

NM_004260.4

p.R1004W

c.3010C>T

5 papers

NM_004260.4

p.V1003delFs

c.3008_3009delCA

1 paper

NM_004260.4

p.R1004Q

c.3011G>A

1 paper

NM_004260.4

p.R1005W

c.3013C>T