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.V189L

c.565G>T

Surrounding Variants

1 paper

NM_002907.4

p.V189L

c.565G>C

1 paper

NM_002907.4

p.Y188fs

c.562_563fs

1 paper

NM_002907.4

p.P191Q

c.572C>A

1 paper

NM_002907.4

p.T190_P191delFs

c.570_571delGA

1 paper

NM_002907.4

p.K185T

c.554A>C

1 paper

NM_002907.4

p.I194T

c.581T>C

6 papers

NM_002907.4

p.A195S

c.583G>T

2 papers

NM_002907.4

p.S182S

c.546C>T

1 paper

NM_002907.4

p.S182Y

c.545C>A

1 paper

NM_002907.4

p.M201I

c.603G>T

1 paper

NM_002907.4

p.M201I

c.603G>C

1 paper

NM_002907.4

p.M201I

c.603G>A