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

1–12 of 207 variants

11 papers

NM_004259.7

p.K58R

c.173A>G

8 papers

NM_004259.7

p.R943H

c.2828G>A

5 papers

NM_004259.7

p.E584D

c.1752A>T

5 papers

NM_004259.7

p.E584D

c.1752A>C

5 papers

NM_004259.7

p.R770*

c.2308C>T

5 papers

NM_004259.7

p.S958R

c.2872A>C

5 papers

NM_004259.7

p.S958R

c.2874C>G

5 papers

NM_004259.7

p.S958R

c.2874C>A

4 papers

NM_004259.7

p.D157A

c.470A>C

4 papers

NM_004259.7

p.R441Q

c.1322G>A

3 papers

NM_004259.7

p.M1insFs

c.2dupT

3 papers

NM_004259.7

p.G44S

c.130G>A