Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.R25P

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
5 papers
NM_004284.6
p.R25P
c.74G>C
Surrounding Variants
1 paper
NM_004284.6
p.R25*
c.73C>T
1 paper
NM_004284.6
p.R25_A26delFs
c.75_76delAG
1 paper
NM_004284.6
p.A26A
c.78C>A
1 paper
NM_004284.6
p.G24fs
c.70_71fs
1 paper
NM_004284.6
p.G24_A26delFs
c.72_76del5
1 paper
NM_004284.6
p.G24delFs
c.70delG
1 paper
NM_004284.6
p.A29A
c.87G>A
1 paper
NM_004284.6
p.L20_H21ins1
c.60_61insAGC
1 paper
NM_004284.6
p.E33V
c.98A>T
1 paper
NM_004284.6
p.G15fs
c.43_44fs
1 paper
NM_004284.6
p.G11fs
c.31_32fs
1 paper
NM_004284.6
p.T7N
c.20C>A
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