Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.Y273_R274delFs

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.Y273_R274delFs
c.819_822del4
Surrounding Variants
1 paper
NM_005534.4
p.Y273insFs
c.817dupT
1 paper
NM_005534.4
p.K272fs
c.814_815fs
2 papers
NM_005534.4
p.C266delFs
c.798delT
1 paper
NM_005534.4
p.C266fs
c.796_797fs
1 paper
NM_005534.4
p.W280*
c.839G>A
1 paper
NM_005534.4
p.H282Y
c.844C>T
13 papers
NM_005534.4
p.G264delFs
c.791delG
1 paper
NM_005534.4
p.A263E
c.788C>A
1 paper
NM_005534.4
p.P284delFs
c.850delC
1 paper
NM_005534.4
p.S260S
c.780G>T
1 paper
NM_005534.4
p.S260L
c.779C>T
1 paper
NM_005534.4
p.P288S
c.862C>T
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