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

5 papers

NM_004259.7

p.S958R

c.2874C>A

Surrounding Variants

5 papers

NM_004259.7

p.S958R

c.2874C>G

5 papers

NM_004259.7

p.S958R

c.2872A>C

1 paper

NM_004259.7

p.T953S

c.2858C>G

1 paper

NM_004259.7

p.T953S

c.2857A>T

1 paper

NM_004259.7

p.H947R

c.2840A>G

8 papers

NM_004259.7

p.R943H

c.2828G>A

1 paper

NM_004259.7

p.E936*

c.2806G>T

3 papers

NM_004259.7

p.K935_E936Splc

c.2806-2A>G

1 paper

NM_004259.7

p.E961delFs

c.2881delC

1 paper

NM_004259.7

p.R968K

c.2903G>A

1 paper

NM_004259.7

p.R974Q

c.2921G>A

2 papers

NM_004259.7

p.R976W

c.2926C>T