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.N285K

c.855T>G

Surrounding Variants

1 paper

NM_002907.4

p.N285K

c.855T>A

1 paper

NM_002907.4

p.L286Q

c.857T>A

1 paper

NM_002907.4

p.N285D

c.853A>G

1 paper

NM_002907.4

p.Y288F

c.863A>T

3 papers

NM_002907.4

p.E289_V290Splc

c.867+1G>T

2 papers

NM_002907.4

p.E289_V290Splc

c.867+1G>A

1 paper

NM_002907.4

p.T278R

c.833C>G

1 paper

NM_002907.4

p.F275S

c.824T>C

2 papers

NM_002907.4

p.C274fs

c.820_821fs

1 paper

NM_002907.4

p.C274*

c.822T>A

1 paper

NM_002907.4

p.C274delFs

c.820delA

1 paper

NM_002907.4

p.C270Y

c.809G>A