Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.R758Q

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.R758Q
c.2273G>A
Surrounding Variants
1 paper
NM_004284.6
p.R758*
c.2272C>T
1 paper
NM_004284.6
p.P762R
c.2285C>G
4 papers
NM_004284.6
p.I765M
c.2295A>G
1 paper
NM_004284.6
p.Y766H
c.2296T>C
1 paper
NM_004284.6
p.A769S
c.2305G>T
1 paper
NM_004284.6
p.W746*
c.2238G>A
1 paper
NM_004284.6
p.W746*
c.2237G>A
2 papers
NM_004284.6
p.S743C
c.2228C>G
2 papers
NM_004284.6
p.D774N
c.2320G>A
1 paper
NM_004284.6
p.I736V
c.2206A>G
2 papers
NM_004284.6
p.P727T
c.2179C>A
6 papers
NM_004284.6
p.D723A
c.2168A>C
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