Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.R116Splc

CHD1L

157 papers

RefSeq Summary

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene...

Pfam Domains

SNF2-rel_domaa 1–255UCSCSNF2-related domain
Helicase_Caa 275–387UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 1 like

HGNC Alias Symbol

ALC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004284.6
p.R116Splc
c.348-1G>C
Surrounding Variants
1 paper
NM_004284.6
p.F117fs
c.349_350fs
1 paper
NM_004284.6
p.T125R
c.374C>G
1 paper
NM_004284.6
p.R145_F146insFs
c.435_436insT
2 papers
NM_004284.6
p.H147Y
c.439C>T
2 papers
NM_004284.6
p.I155F
c.463A>T
1 paper
NM_004284.6
p.S165Splc
c.494+1G>A
1 paper
NM_004284.6
p.Q115Q
c.345G>A
2 papers
NM_004284.6
p.L88W
c.263T>G
3 papers
NM_004284.6
p.K77R
c.230A>G
1 paper
NM_004284.6
p.L75M
c.223C>A
1 paper
NM_004284.6
p.E72K
c.214G>A
1 paper
NM_004284.6
p.D71_E72delFs
c.213_214delTG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."