Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.L318H

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.L318H
c.953T>A
Surrounding Variants
1 paper
NM_004284.6
p.R319*
c.955C>T
2 papers
NM_004284.6
p.R319Q
c.956G>A
1 paper
NM_004284.6
p.D323V
c.968A>T
1 paper
NM_004284.6
p.L327delFs
c.981delG
1 paper
NM_004284.6
p.D329V
c.986A>T
1 paper
NM_004284.6
p.E302*
c.904G>T
2 papers
NM_004284.6
p.P333R
c.998C>G
1 paper
NM_004284.6
p.P333L
c.998C>T
1 paper
NM_004284.6
p.E334K
c.1000G>A
1 paper
NM_004284.6
p.E334A
c.1001A>C
1 paper
NM_004284.6
p.D340Y
c.1018G>T
1 paper
NM_004284.6
p.D340A
c.1019A>C
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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."