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.A571G

c.1712C>G

Surrounding Variants

1 paper

NM_004259.7

p.L556I

c.1666C>A

1 paper

NM_004259.7

p.R555W

c.1663C>T

3 papers

NM_004259.7

p.R550W

c.1648C>T

1 paper

NM_004259.7

p.L534P

c.1601T>C

2 papers

NM_004259.7

p.D529Splc

c.1586-6C>A

1 paper

NM_004259.7

p.D529Splc

c.1585+3C>T

1 paper

NM_004259.7

p.E573D

c.1719A>T

1 paper

NM_004259.7

p.E573D

c.1719A>C

1 paper

NM_004259.7

p.E524A

c.1571A>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.I522V

c.1564A>G