Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.S194_V195del1

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
1 paper
NM_004284.6
p.S194_V195del1
c.581_583delCAG
Surrounding Variants
1 paper
NM_004284.6
p.S194_V195del2
c.580_584del6
1 paper
NM_004284.6
p.G203R
c.607G>A
1 paper
NM_004284.6
p.G203R
c.607G>C
1 paper
NM_004284.6
p.P205delFs
c.613delC
1 paper
NM_004284.6
p.I206fs
c.616_617fs
1 paper
NM_004284.6
p.Q207*
c.619C>T
1 paper
NM_004284.6
p.L213_Y214del2
c.637_641del6
1 paper
NM_004284.6
p.L217L
c.651C>T
1 paper
NM_004284.6
p.S218C
c.652A>T
1 paper
NM_004284.6
p.V220M
c.658G>A
1 paper
NM_004284.6
p.V220A
c.659T>C
1 paper
NM_004284.6
p.E228K
c.682G>A
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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."