Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.V127L

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
2 papers
NM_005534.4
p.V127L
c.379G>T
Surrounding Variants
2 papers
NM_005534.4
p.T128_M129ins0
c.382_387dup6
1 paper
NM_005534.4
p.V127V
c.381G>C
1 paper
NM_005534.4
p.M129insFs
c.386dupT
8 papers
NM_005534.4
p.M129insFs
c.387dupG
9 papers
NM_005534.4
p.S124F
c.371C>T
2 papers
NM_005534.4
p.M129I
c.387G>C
1 paper
NM_005534.4
p.P130L
c.389C>T
1 paper
NM_005534.4
p.A121T
c.361G>A
1 paper
NM_005534.4
p.G120E
c.359G>A
1 paper
NM_005534.4
p.G120R
c.358G>A
1 paper
NM_005534.4
p.G120R
c.358G>C
1 paper
NM_005534.4
p.L119V
c.355C>G
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