Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.C174fs

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
1 paper
NM_005534.4
p.C174fs
c.520_521fs
Surrounding Variants
1 paper
NM_005534.4
p.C174Y
c.521G>A
4 papers
NM_005534.4
p.Y175delFs
c.523delT
1 paper
NM_005534.4
p.Y175fs
c.523_524fs
1 paper
NM_005534.4
p.F172insFs
c.514dupT
1 paper
NM_005534.4
p.Y176Y
c.528T>C
1 paper
NM_005534.4
p.T170T
c.510G>A
1 paper
NM_005534.4
p.T170M
c.509C>T
2 papers
NM_005534.4
p.T170A
c.508A>G
1 paper
NM_005534.4
p.H178R
c.533A>G
29 papers
NM_005534.4
p.T168N
c.503C>A
3 papers
NM_005534.4
p.Y179*
c.537C>A
3 papers
NM_005534.4
p.Y179*
c.537C>G
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