Varaico: Literature-Extracted Genetic Variants

RECQL

254 papers

RefSeq Summary

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair a...

Pfam Domains

DEADaa 93–265UCSCDEAD/DEAH box helicase

Helicase_Caa 299–409UCSCHelicase conserved C-terminal domain

RecQ_Zn_bindaa 420–479UCSCRecQ zinc-binding

Gene Aliases

HGNC Name

RecQ like helicase

HGNC Alias Symbols

RecQ1; RecQL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002907.4

p.E71G

c.212A>G

Surrounding Variants

1 paper

NM_002907.4

p.W68_N69del2

c.202_206del6

1 paper

NM_002907.4

p.N69K

c.207T>G

1 paper

NM_002907.4

p.N69K

c.207T>A

4 papers

NM_002907.4

p.A67T

c.199G>A

1 paper

NM_002907.4

p.P65L

c.194C>T

1 paper

NM_002907.4

p.P65H

c.194C>A

1 paper

NM_002907.4

p.S63A

c.187T>G

2 papers

NM_002907.4

p.S63P

c.187T>C

1 paper

NM_002907.4

p.E60*

c.178G>T

1 paper

NM_002907.4

p.A57S

c.169G>T

2 papers

NM_002907.4

p.G56R

c.166G>C

2 papers

NM_002907.4

p.G56R

c.166G>A