Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.R136Q

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.R136Q
c.407G>A
Surrounding Variants
1 paper
NM_005534.4
p.R136ins1
c.406_407insATT
1 paper
NM_005534.4
p.R136W
c.406C>T
1 paper
NM_005534.4
p.P130L
c.389C>T
2 papers
NM_005534.4
p.M129I
c.387G>C
8 papers
NM_005534.4
p.M129insFs
c.387dupG
1 paper
NM_005534.4
p.M129insFs
c.386dupT
1 paper
NM_005534.4
p.V127V
c.381G>C
2 papers
NM_005534.4
p.T128_M129ins0
c.382_387dup6
2 papers
NM_005534.4
p.V127L
c.379G>T
9 papers
NM_005534.4
p.S124F
c.371C>T
1 paper
NM_005534.4
p.A121T
c.361G>A
1 paper
NM_005534.4
p.G120E
c.359G>A
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