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

2 papers

NM_002907.4

p.I489V

c.1465A>G

Surrounding Variants

1 paper

NM_002907.4

p.I489insFs

c.1466dupT

1 paper

NM_002907.4

p.K487_N488delFs

c.1461_1462delTC

1 paper

NM_002907.4

p.T490I

c.1469C>T

1 paper

NM_002907.4

p.K487T

c.1460A>C

1 paper

NM_002907.4

p.T490fs

c.1468_1469fs

1 paper

NM_002907.4

p.E491Q

c.1471G>C

1 paper

NM_002907.4

p.T490delFs

c.1469_1470delTG

1 paper

NM_002907.4

p.T490_E491delFs

c.1470_1471delCT

7 papers

NM_002907.4

p.Y492*

c.1476C>G

6 papers

NM_002907.4

p.Y492*

c.1476C>A

1 paper

NM_002907.4

p.C493S

c.1477T>A

6 papers

NM_002907.4

p.D495H

c.1483G>C