Varaico: Literature-Extracted Genetic Variants

Gene:CNTFR
Variant:p.R247G

CNTFR

48 papers

RefSeq Summary

This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical...

Pfam Domains

fn3aa 205–297UCSCFibronectin type III domain

Gene Aliases

HGNC Name

ciliary neurotrophic factor receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_147164.3
p.R247G
c.739C>G
Surrounding Variants
1 paper
NM_147164.3
p.R245H
c.734G>A
1 paper
NM_147164.3
p.R245C
c.733C>T
1 paper
NM_147164.3
p.D252Y
c.754G>T
1 paper
NM_147164.3
p.Q255H
c.765G>T
1 paper
NM_147164.3
p.Q255H
c.765G>C
2 papers
NM_147164.3
p.E236_S237Fs
c.708_709delinsTFs
1 paper
NM_147164.3
p.D234H
c.700G>C
1 paper
NM_147164.3
p.W226insFs
c.677_678insA
1 paper
NM_147164.3
p.E223K
c.667G>A
1 paper
NM_147164.3
p.V202Splc
c.604+4C>T
1 paper
NM_147164.3
p.I181V
c.541A>G
1 paper
NM_147164.3
p.H170H
c.510C>T
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