Varaico: Literature-Extracted Genetic Variants

Gene:CHCT1
Variant:p.R183Q

CHCT1

26 papers

Pfam Domains

CHD1-like_Caa 43–133UCSCChromodomain-helicase-DNA-binding protein 1-like, C-terminal

Gene Aliases

HGNC Name

CHD1 helical C-terminal domain containing 1

HGNC Previous Symbol

C17orf64

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181707.3
p.R183Q
c.548G>A
Surrounding Variants
1 paper
NM_181707.3
p.G191A
c.572G>C
1 paper
NM_181707.3
p.L173P
c.518T>C
1 paper
NM_181707.3
p.S202F
c.605C>T
1 paper
NM_181707.3
p.R160L
c.479G>T
1 paper
NM_181707.3
p.V206A
c.617T>C
1 paper
NM_181707.3
p.R160W
c.478C>T
1 paper
NM_181707.3
p.D209Y
c.625G>T
1 paper
NM_181707.3
p.P152L
c.455C>T
1 paper
NM_181707.3
p.V144M
c.430G>A
1 paper
NM_181707.3
p.R212G
c.634A>G
1 paper
NM_181707.3
p.A228V
c.683C>T
1 paper
NM_181707.3
p.P229T
c.685C>A
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