Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.S100R

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.S100R
c.300T>A
Surrounding Variants
1 paper
NM_005534.4
p.P101L
c.302C>T
1 paper
NM_005534.4
p.A99_F105delFs
c.297_313del17
1 paper
NM_005534.4
p.S102insFs
c.306dupA
1 paper
NM_005534.4
p.S102L
c.305C>T
1 paper
NM_005534.4
p.A103delFs
c.307delG
1 paper
NM_005534.4
p.A99_S102del0
c.295_306del12
1 paper
NM_005534.4
p.A103T
c.307G>A
1 paper
NM_005534.4
p.A103S
c.307G>T
1 paper
NM_005534.4
p.A103V
c.308C>T
2 papers
NM_005534.4
p.A98T
c.292G>A
2 papers
NM_005534.4
p.G104S
c.310G>A
1 paper
NM_005534.4
p.G104D
c.311G>A
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