Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.S562C

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.S562C
c.1684A>T
Surrounding Variants
1 paper
NM_004284.6
p.E559del1
c.1675_1676delGAA
1 paper
NM_004284.6
p.K546N
c.1638A>C
1 paper
NM_004284.6
p.K546N
c.1638A>T
1 paper
NM_004284.6
p.K546E
c.1636A>G
1 paper
NM_004284.6
p.I541_L542delins
c.1623_1624delinsCA
1 paper
NM_004284.6
p.M533T
c.1598T>C
1 paper
NM_004284.6
p.T532A
c.1594A>G
1 paper
NM_004284.6
p.K519N
c.1557A>C
3 papers
NM_004284.6
p.I517M
c.1551A>G
1 paper
NM_004284.6
p.E516insFs
c.1546_1547insT
1 paper
NM_004284.6
p.Q513*
c.1537C>T
1 paper
NM_004284.6
p.D509Y
c.1525G>T
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