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.L64V

c.190C>G

Surrounding Variants

11 papers

NM_004259.7

p.K58R

c.173A>G

1 paper

NM_004259.7

p.G71C

c.211G>T

1 paper

NM_004259.7

p.M52_P53del2

c.154_158del6

2 papers

NM_004259.7

p.I74V

c.220A>G

1 paper

NM_004259.7

p.T54A

c.160A>G

2 papers

NM_004259.7

p.I74T

c.221T>C

1 paper

NM_004259.7

p.P53S

c.157C>T

2 papers

NM_004259.7

p.P78L

c.233C>T

3 papers

NM_004259.7

p.G44S

c.130G>A

2 papers

NM_004259.7

p.Q84R

c.251A>G

3 papers

NM_004259.7

p.G44S

c.130G>A

1 paper

NM_004259.7

p.V42I

c.124G>A