Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.Y235*

IFNGR2

283 papers

RefSeq Summary

This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of m...

Pfam Domains

Tissue_facaa 4–126UCSCTissue factor
Interfer-bindaa 138–238UCSCInterferon-alpha/beta receptor, fibronectin type III

Gene Aliases

HGNC Name

interferon gamma receptor 2

HGNC Previous Symbol

IFNGT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_005534.4
p.Y235*
c.705C>G
Surrounding Variants
8 papers
NM_005534.4
p.Y235*
c.705C>A
3 papers
NM_005534.4
p.E236D
c.708A>C
3 papers
NM_005534.4
p.E236D
c.708A>T
1 paper
NM_005534.4
p.T237insFs
c.710dupC
1 paper
NM_005534.4
p.T237delFs
c.710delC
2 papers
NM_005534.4
p.C234ins7
c.700_701ins21
1 paper
NM_005534.4
p.I232V
c.694A>G
1 paper
NM_005534.4
p.H228D
c.682C>G
1 paper
NM_005534.4
p.A241Splc
c.721+7T>C
12 papers
NM_005534.4
p.G227R
c.679G>A
12 papers
NM_005534.4
p.G227R
c.679G>C
1 paper
NM_005534.4
p.I223T
c.668T>C
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