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.G523A

c.1568G>C

Surrounding Variants

1 paper

NM_002907.4

p.K522R

c.1565A>G

1 paper

NM_002907.4

p.L527delFs

c.1580_1581delCA

1 paper

NM_002907.4

p.S518T

c.1552T>A

1 paper

NM_002907.4

p.V529I

c.1585G>A

1 paper

NM_002907.4

p.I516insFs

c.1548dupT

1 paper

NM_002907.4

p.P512P

c.1536A>T

1 paper

NM_002907.4

p.P535S

c.1603C>T

2 papers

NM_002907.4

p.K509*

c.1525A>T

1 paper

NM_002907.4

p.P538fs

c.1612_1613fs

1 paper

NM_002907.4

p.L506_N507del2

c.1516_1520del6

1 paper

NM_002907.4

p.R539C

c.1615C>T

3 papers

NM_002907.4

p.R539P

c.1616G>C