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

1 paper

NM_000416.3

p.S396L

c.1187C>T

Surrounding Variants

1 paper

NM_000416.3

p.Y397F

c.1190A>T

6 papers

NM_000416.3

p.Y397C

c.1190A>G

1 paper

NM_000416.3

p.S391S

c.1173C>T

1 paper

NM_000416.3

p.S391G

c.1171A>G

2 papers

NM_000416.3

p.P389_G390insFs

c.1167_1168insC

1 paper

NM_000416.3

p.P389A

c.1165C>G

1 paper

NM_000416.3

p.S405N

c.1214G>A

1 paper

NM_000416.3

p.D406V

c.1217A>T

2 papers

NM_000416.3

p.D406_H407insFs

c.1218_1219insA

1 paper

NM_000416.3

p.H407P

c.1220A>C

1 paper

NM_000416.3

p.S384I

c.1151G>T

1 paper

NM_000416.3

p.S408F

c.1223C>T