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.Q192H

c.576G>C

Surrounding Variants

1 paper

NM_004260.4

p.Q192H

c.576G>T

1 paper

NM_004260.4

p.Q192delFs

c.575delT

2 papers

NM_004260.4

p.R193*

c.577C>T

1 paper

NM_004260.4

p.R193Q

c.578G>A

1 paper

NM_004260.4

p.L191delFs

c.572_573delTA

1 paper

NM_004260.4

p.L186_P188insFs

c.558_564dup7

1 paper

NM_004260.4

p.S196T

c.587G>C

1 paper

NM_004260.4

p.G189S

c.565G>A

1 paper

NM_004260.4

p.H195_S196delFs

c.585_586delTG

1 paper

NM_004260.4

p.G189fs

c.565_566fs

1 paper

NM_004260.4

p.P188delFs

c.563delG

1 paper

NM_004260.4

p.P188S

c.562C>T