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.L250V

c.748C>G

Surrounding Variants

4 papers

NM_002907.4

p.A248T

c.742G>A

1 paper

NM_002907.4

p.N247T

c.740A>C

1 paper

NM_002907.4

p.L253fs

c.757_758fs

4 papers

NM_002907.4

p.Q244*

c.730C>T

1 paper

NM_002907.4

p.T256fs

c.766_767fs

1 paper

NM_002907.4

p.T258A

c.772A>G

1 paper

NM_002907.4

p.V261I

c.781G>A

1 paper

NM_002907.4

p.A265S

c.793G>T

11 papers

NM_002907.4

p.Q266*

c.796C>T

1 paper

NM_002907.4

p.Q266E

c.796C>G

2 papers

NM_002907.4

p.D234Splc

c.701-2A>C

1 paper

NM_002907.4

p.C270Y

c.809G>A