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.L374_R375insFs

c.1122_1123ins16

Surrounding Variants

1 paper

NM_004260.4

p.L374L

c.1122C>T

2 papers

NM_004260.4

p.R375C

c.1123C>T

3 papers

NM_004260.4

p.R375H

c.1124G>A

1 paper

NM_004260.4

p.K376R

c.1127A>G

1 paper

NM_004260.4

p.S371_R372insFs

c.1111_1114dup4

12 papers

NM_004260.4

p.R372T

c.1115G>C

1 paper

NM_004260.4

p.Q377R

c.1130A>G

1 paper

NM_004260.4

p.Q377Q

c.1131G>A

1 paper

NM_004260.4

p.Q377_A378Splc

c.1131+1G>T

1 paper

NM_004260.4

p.S371insFs

c.1111dupA

1 paper

NM_004260.4

p.S371N

c.1112G>A

1 paper

NM_004260.4

p.Q377_A378Splc

c.1131+2T>A