Varaico: Literature-Extracted Genetic Variants

RECQL5

143 papers

RefSeq Summary

The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcr...

Pfam Domains

DEADaa 31–203UCSCDEAD/DEAH box helicase

Helicase_Caa 244–354UCSCHelicase conserved C-terminal domain

RecQ_Zn_bindaa 365–435UCSCRecQ zinc-binding

RecQ5aa 625–827UCSCRecQ helicase protein-like 5 (RecQ5)

SRIaa 912–980UCSCSRI (Set2 Rpb1 interacting) domain

Gene Aliases

HGNC Name

RecQ like helicase 5

HGNC Alias Symbols

RecQ5; FLJ90603

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004259.7

p.S18R

c.54T>A

Surrounding Variants

1 paper

NM_004259.7

p.S18delFs

c.52_53delCT

1 paper

NM_004259.7

p.S18fs

c.52_53fs

1 paper

NM_004259.7

p.R17R

c.51G>A

1 paper

NM_004259.7

p.R17P

c.50G>C

1 paper

NM_004259.7

p.R14Q

c.41G>A

1 paper

NM_004259.7

p.R14W

c.40C>T

1 paper

NM_004259.7

p.S2insFs

c.5_6insA

1 paper

NM_004259.7

p.S2N

c.5G>A

1 paper

NM_004259.7

p.M1I

c.3G>T

3 papers

NM_004259.7

p.M1insFs

c.2dupT

1 paper

NM_004259.7

p.M1I

c.3G>C

1 paper

NM_004259.7

p.M1I

c.3G>A