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.K730E

c.2188A>G

Surrounding Variants

1 paper

NM_004259.7

p.K730*

c.2188A>T

3 papers

NM_004259.7

p.S727A

c.2179T>G

2 papers

NM_004259.7

p.S739S

c.2217C>T

1 paper

NM_004259.7

p.R745W

c.2233C>T

1 paper

NM_004259.7

p.R745Q

c.2234G>A

1 paper

NM_004259.7

p.A746P

c.2236G>C

1 paper

NM_004259.7

p.G711E

c.2132G>A

1 paper

NM_004259.7

p.A754S

c.2260G>T

1 paper

NM_004259.7

p.E703A

c.2108A>C

1 paper

NM_004259.7

p.H758Y

c.2272C>T

1 paper

NM_004259.7

p.C698R

c.2092T>C

1 paper

NM_004259.7

p.P697H

c.2090C>A