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

4 papers

NM_002907.4

p.R454H

c.1361G>A

Surrounding Variants

1 paper

NM_002907.4

p.R454C

c.1360C>T

9 papers

NM_002907.4

p.R455C

c.1363C>T

1 paper

NM_002907.4

p.R455P

c.1364G>C

1 paper

NM_002907.4

p.C453R

c.1357T>C

2 papers

NM_002907.4

p.R455del1

c.1363_1364delACG

8 papers

NM_002907.4

p.M458K

c.1373T>A

3 papers

NM_002907.4

p.A459S

c.1375G>T

3 papers

NM_002907.4

p.Q460*

c.1378C>T

7 papers

NM_002907.4

p.H461R

c.1382A>G

2 papers

NM_002907.4

p.C475C

c.1425C>T

1 paper

NM_002907.4

p.D476N

c.1426G>A

1 paper

NM_002907.4

p.D481delins

c.1441_1442delinsTT