Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.K630*

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.K630*
c.1888A>T
Surrounding Variants
1 paper
NM_004284.6
p.T629N
c.1886C>A
1 paper
NM_004284.6
p.V634F
c.1900G>T
1 paper
NM_004284.6
p.P637T
c.1909C>A
1 paper
NM_004284.6
p.E641fs
c.1921_1922fs
2 papers
NM_004284.6
p.R643fs
c.1927_1928fs
3 papers
NM_004284.6
p.R643delFs
c.1929delA
1 paper
NM_004284.6
p.Q644*
c.1930C>T
2 papers
NM_004284.6
p.A652T
c.1954G>A
1 paper
NM_004284.6
p.I658T
c.1973T>C
1 paper
NM_004284.6
p.K662del1
c.1984_1985delAAG
1 paper
NM_004284.6
p.R614Q
c.1841G>A
1 paper
NM_004284.6
p.S612A
c.1834T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."