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

14 papers

NM_000416.3

p.Y175delFs

c.523delA

Surrounding Variants

2 papers

NM_000416.3

p.Y175fs

c.523_524fs

5 papers

NM_000416.3

p.Y175fs

c.523_524fs

1 paper

NM_000416.3

p.V174A

c.521T>C

1 paper

NM_000416.3

p.N173S

c.518A>G

1 paper

NM_000416.3

p.Y172insFs

c.514dupT

2 papers

NM_000416.3

p.Y172D

c.514T>G

1 paper

NM_000416.3

p.N179K

c.537C>G

1 paper

NM_000416.3

p.N179K

c.537C>A

4 papers

NM_000416.3

p.G180R

c.538G>C

4 papers

NM_000416.3

p.G180R

c.538G>A

1 paper

NM_000416.3

p.I169T

c.506T>C

1 paper

NM_000416.3

p.Y168H

c.502T>C