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.P775L

c.2324C>T

Surrounding Variants

1 paper

NM_004259.7

p.L777P

c.2330T>C

1 paper

NM_004259.7

p.A779T

c.2335G>A

1 paper

NM_004259.7

p.S780*

c.2339C>G

1 paper

NM_004259.7

p.S780*

c.2339C>A

5 papers

NM_004259.7

p.R770*

c.2308C>T

1 paper

NM_004259.7

p.S780delFs

c.2340delT

1 paper

NM_004259.7

p.A781fs

c.2341_2342fs

2 papers

NM_004259.7

p.R766C

c.2296C>T

1 paper

NM_004259.7

p.H758Y

c.2272C>T

1 paper

NM_004259.7

p.A754S

c.2260G>T

2 papers

NM_004259.7

p.P798insFs

c.2393dupC

2 papers

NM_004259.7

p.M799fs

c.2395_2396fs