Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.P688delFs

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.P688delFs
c.2064delC
Surrounding Variants
1 paper
NM_004284.6
p.P688fs
c.2062_2063fs
1 paper
NM_004284.6
p.S692R
c.2074A>C
1 paper
NM_004284.6
p.S692R
c.2076C>A
1 paper
NM_004284.6
p.S692R
c.2076C>G
1 paper
NM_004284.6
p.N699K
c.2097T>A
1 paper
NM_004284.6
p.N699K
c.2097T>G
4 papers
NM_001256336.3
p.G600R
c.1798G>A
NM_004284.6
p.G700R
c.2098G>A
4 papers
NM_001256336.3
p.G600R
c.1798G>C
NM_004284.6
p.G700R
c.2098G>C
1 paper
NM_004284.6
p.S703I
c.2108G>T
1 paper
NM_004284.6
p.V720I
c.2158G>A
6 papers
NM_004284.6
p.D723A
c.2168A>C
2 papers
NM_004284.6
p.P727T
c.2179C>A
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