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

3 papers

NM_002907.4

p.R539P

c.1616G>C

Surrounding Variants

1 paper

NM_002907.4

p.R539C

c.1615C>T

1 paper

NM_002907.4

p.P538fs

c.1612_1613fs

1 paper

NM_002907.4

p.L542M

c.1624C>A

1 paper

NM_002907.4

p.P535S

c.1603C>T

1 paper

NM_002907.4

p.K544M

c.1631A>T

2 papers

NM_002907.4

p.I546T

c.1637T>C

1 paper

NM_002907.4

p.H548Y

c.1642C>T

1 paper

NM_002907.4

p.H548P

c.1643A>C

1 paper

NM_002907.4

p.V529I

c.1585G>A

1 paper

NM_002907.4

p.L550I

c.1648C>A

1 paper

NM_002907.4

p.L527delFs

c.1580_1581delCA

1 paper

NM_002907.4

p.I551V

c.1651A>G