Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.G577D

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.G577D
c.1730G>A
Surrounding Variants
1 paper
NM_004284.6
p.S581_E583del3
c.1741_1748del9
1 paper
NM_004284.6
p.K582*
c.1744A>T
1 paper
NM_004284.6
p.M572L
c.1714A>T
1 paper
NM_004284.6
p.E583G
c.1748A>G
1 paper
NM_004284.6
p.E593E
c.1779A>G
1 paper
NM_004284.6
p.Q594H
c.1782A>C
1 paper
NM_004284.6
p.Q594H
c.1782A>T
3 papers
NM_004284.6
p.E604*
c.1810G>T
1 paper
NM_004284.6
p.A606V
c.1817C>T
2 papers
NM_004284.6
p.R611*
c.1831C>T
1 paper
NM_004284.6
p.R611Q
c.1832G>A
1 paper
NM_004284.6
p.S612A
c.1834T>G
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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."