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.S428A

c.1282T>G

Surrounding Variants

4 papers

NM_002907.4

p.M429V

c.1285A>G

1 paper

NM_002907.4

p.S427_S428del2

c.1279_1283del6

1 paper

NM_002907.4

p.I426_S427insFs

c.1278_1279insC

1 paper

NM_002907.4

p.I423insFs

c.1267dupA

1 paper

NM_002907.4

p.E433A

c.1298A>C

1 paper

NM_002907.4

p.G419S

c.1255G>A

1 paper

NM_002907.4

p.Q437Q

c.1311G>A

1 paper

NM_002907.4

p.L416W

c.1247T>G

1 paper

NM_002907.4

p.L440F

c.1318C>T

1 paper

NM_002907.4

p.Y441*

c.1323T>G

1 paper

NM_002907.4

p.Y441*

c.1323T>A

3 papers

NM_002907.4

p.C414Y

c.1241G>A