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.R654P

c.1961G>C

Surrounding Variants

2 papers

NM_004259.7

p.R654Q

c.1961G>A

2 papers

NM_004259.7

p.R654W

c.1960C>T

1 paper

NM_004259.7

p.K653Q

c.1957A>C

2 papers

NM_004259.7

p.P665L

c.1994C>T

1 paper

NM_004259.7

p.P665P

c.1995G>A

1 paper

NM_004259.7

p.T668A

c.2002A>G

1 paper

NM_004259.7

p.T675T

c.2025A>G

1 paper

NM_004259.7

p.Q684*

c.2050C>T

1 paper

NM_004259.7

p.R687W

c.2059C>T

2 papers

NM_004259.7

p.R687P

c.2060G>C

1 paper

NM_004259.7

p.R687Q

c.2060G>A

1 paper

NM_004259.7

p.H691H

c.2073C>T