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.A503_E504delFs

c.1507_1510del4

Surrounding Variants

2 papers

NM_002907.4

p.E505*

c.1513G>T

1 paper

NM_002907.4

p.A503fs

c.1507_1508fs

1 paper

NM_002907.4

p.L506_N507del2

c.1516_1520del6

2 papers

NM_002907.4

p.K509*

c.1525A>T

2 papers

NM_002907.4

p.I497fs

c.1489_1490fs

3 papers

NM_002907.4

p.I497insFs

c.1489dupA

1 paper

NM_002907.4

p.I497fs

c.1489_1490fs

1 paper

NM_002907.4

p.P512P

c.1536A>T

6 papers

NM_002907.4

p.D495H

c.1483G>C

1 paper

NM_002907.4

p.C493S

c.1477T>A

7 papers

NM_002907.4

p.Y492*

c.1476C>G

6 papers

NM_002907.4

p.Y492*

c.1476C>A