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

2 papers

NM_004259.7

p.D168A

c.503A>C

Surrounding Variants

1 paper

NM_004259.7

p.D172H

c.514G>C

1 paper

NM_004259.7

p.R175C

c.523C>T

2 papers

NM_004259.7

p.R175H

c.524G>A

1 paper

NM_004259.7

p.H160L

c.479A>T

4 papers

NM_004259.7

p.D157A

c.470A>C

1 paper

NM_004259.7

p.R180C

c.538C>T

2 papers

NM_004259.7

p.R180H

c.539G>A

2 papers

NM_004259.7

p.R182H

c.545G>A

1 paper

NM_004259.7

p.H149Y

c.445C>T

1 paper

NM_004259.7

p.C188F

c.563G>T

3 papers

NM_004259.7

p.R148C

c.442C>T

1 paper

NM_004259.7

p.A190G

c.569C>G