Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.K462Splc

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
4 papers
NM_004284.6
p.K462Splc
c.1386-2A>G
Surrounding Variants
1 paper
NM_004284.6
p.K462K
c.1386G>A
1 paper
NM_004284.6
p.I467N
c.1400T>A
1 paper
NM_004284.6
p.R468W
c.1402C>T
1 paper
NM_004284.6
p.R472*
c.1414C>T
1 paper
NM_004284.6
p.E477A
c.1430A>C
1 paper
NM_004284.6
p.T490I
c.1469C>T
1 paper
NM_004284.6
p.A503_Q504del2
c.1507_1511del6
1 paper
NM_004284.6
p.D509Y
c.1525G>T
1 paper
NM_004284.6
p.Q513*
c.1537C>T
1 paper
NM_004284.6
p.R457H
c.1370G>A
1 paper
NM_004284.6
p.Q446_N447delFs
c.1337_1340del4
1 paper
NM_004284.6
p.A433del1
c.1297_1298delGCA
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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."