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.L4F

c.10C>T

Surrounding Variants

1 paper

NM_000416.3

p.L3H

c.8T>A

1 paper

NM_000416.3

p.A2V

c.5C>T

2 papers

NM_000416.3

p.A2G

c.5C>G

1 paper

NM_000416.3

p.A2T

c.4G>A

1 paper

NM_000416.3

p.L6V

c.16C>G

1 paper

NM_000416.3

p.M1I

c.3G>T

1 paper

NM_000416.3

p.M1insFs

c.2dupT

1 paper

NM_000416.3

p.M1insFs

c.1_2dupAT

1 paper

NM_000416.3

p.M1I

c.3G>C

1 paper

NM_000416.3

p.M1I

c.3G>A

1 paper

NM_000416.3

p.M1delFs

c.2delA

1 paper

NM_000416.3

p.M1R

c.2T>G