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.K604del1

c.1810_1811delCTT

Surrounding Variants

1 paper

NM_004259.7

p.K604_V605Splc

c.1812+2T>C

1 paper

NM_004259.7

p.V601M

c.1801G>A

2 papers

NM_004259.7

p.K598E

c.1792A>G

1 paper

NM_004259.7

p.R589W

c.1765C>T

5 papers

NM_004259.7

p.E584D

c.1752A>T

5 papers

NM_004259.7

p.E584D

c.1752A>C

1 paper

NM_004259.7

p.E584A

c.1751A>C

1 paper

NM_004259.7

p.V581L

c.1741G>T

1 paper

NM_004259.7

p.V581L

c.1741G>C

1 paper

NM_004259.7

p.E573D

c.1719A>T

1 paper

NM_004259.7

p.E573D

c.1719A>C

2 papers

NM_004259.7

p.S628N

c.1883G>A