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.A254V

c.761C>T

Surrounding Variants

1 paper

NM_000416.3

p.A254A

c.762T>C

1 paper

NM_000416.3

p.L255delFs

c.765delT

1 paper

NM_000416.3

p.L257V

c.769C>G

1 paper

NM_000416.3

p.L257insFs

c.769dupC

1 paper

NM_000416.3

p.F258fs

c.772_773fs

1 paper

NM_000416.3

p.P250R

c.749C>G

1 paper

NM_000416.3

p.P250S

c.748C>T

1 paper

NM_000416.3

p.L259V

c.775C>G

1 paper

NM_000416.3

p.L259delFs

c.775delG

3 papers

NM_000416.3

p.I249delFs

c.745delT

1 paper

NM_000416.3

p.I249fs

c.745_746fs

1 paper

NM_000416.3

p.I249F

c.745A>T