Varaico: Literature-Extracted Genetic Variants

Gene:CHLSN
Variant:p.Q123R

CHLSN

31 papers

Pfam Domains

WKFaa 104–166UCSCWKF domain

Gene Aliases

HGNC Name

cholesin

HGNC Previous Symbol

C7orf50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318252.2
p.Q123R
c.368A>G
Surrounding Variants
1 paper
NM_001318252.2
p.T121T
c.363G>A
1 paper
NM_001318252.2
p.W116C
c.348G>T
1 paper
NM_001318252.2
p.W116C
c.348G>C
1 paper
NM_001318252.2
p.H113Y
c.337C>T
1 paper
NM_001318252.2
p.K135N
c.405G>T
1 paper
NM_001318252.2
p.K135N
c.405G>C
1 paper
NM_001318252.2
p.W109S
c.326G>C
3 papers
NM_001318252.2
p.A155delFs
c.463delC
4 papers
NM_001318252.2
p.A155fs
c.463_464fs
1 paper
NM_001318252.2
p.T159M
c.476C>T
1 paper
NM_001318252.2
p.R168delFs
c.504delC
1 paper
NM_001318252.2
p.L179fs
c.535_536fs
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