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

2 papers

NM_000416.3

p.P44fs

c.130_131fs

Surrounding Variants

2 papers

NM_000416.3

p.P44R

c.131C>G

2 papers

NM_000416.3

p.P44fs

c.130_131fs

10 papers

NM_000416.3

p.P44delFs

c.131delG

1 paper

NM_000416.3

p.N43Y

c.127A>T

3 papers

NM_000416.3

p.I45V

c.133A>G

1 paper

NM_000416.3

p.V35_P44del10

c.103_131del30

2 papers

NM_000416.3

p.E38_I45delFs

c.114_135del22

1 paper

NM_000416.3

p.M42L

c.124A>T

1 paper

NM_000416.3

p.M42L

c.124A>C

2 papers

NM_000416.3

p.Y40C

c.119A>G

2 papers

NM_000416.3

p.S39fs

c.115_116fs

1 paper

NM_000416.3

p.I37_E38insFs

c.111_112insC