Varaico: Literature-Extracted Genetic Variants

IFNGR1

438 papers

RefSeq Summary

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is as...

Pfam Domains

Tissue_facaa 1–72UCSCTissue factor

Tissue_facaa 7–103UCSCTissue factor

IFNGR1_D2aa 90–199UCSCInterferon gamma receptor (IFNGR1), D2 domain

IFNGR1_transmaa 221–309UCSCInterferon gamma receptor 1, transmembrane region

Gene Aliases

HGNC Name

interferon gamma receptor 1

HGNC Alias Symbol

CD119

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000416.3

p.V63G

c.188T>G

Surrounding Variants

1 paper

NM_000416.3

p.V63L

c.187G>C

1 paper

NM_000416.3

p.E62insFs

c.184_185insCC

1 paper

NM_000416.3

p.E62K

c.184G>A

4 papers

NM_000416.3

p.V61insFs

c.182dupT

1 paper

NM_000416.3

p.V61_E62insFs

c.183_184insCC

1 paper

NM_000416.3

p.V61fs

c.181_182fs

6 papers

NM_000416.3

p.V61E

c.182T>A

7 papers

NM_000416.3

p.V61I

c.181G>A

6 papers

NM_000416.3

p.Y66C

c.197A>G

1 paper

NM_000416.3

p.Y66insFs

c.196dupT

1 paper

NM_000416.3

p.F59delFs

c.177delA

1 paper

NM_000416.3

p.G67Splc

c.200+1G>T