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.E354_T357del4

c.1060_1070del12

Surrounding Variants

1 paper

NM_000416.3

p.V355_V356del1

c.1064_1066delCCA

1 paper

NM_000416.3

p.N361S

c.1082A>G

3 papers

NM_000416.3

p.I352M

c.1056A>G

1 paper

NM_000416.3

p.I352insFs

c.1054dupA

6 papers

NM_000416.3

p.S350S

c.1050T>G

3 papers

NM_000416.3

p.V365A

c.1094T>C

2 papers

NM_000416.3

p.P367P

c.1101G>A

1 paper

NM_000416.3

p.E347_E348insT

c.1039_1043ins3

1 paper

NM_000416.3

p.T346delFs

c.1037delG

1 paper

NM_000416.3

p.H345insFs

c.1035dupT

2 papers

NM_000416.3

p.H345R

c.1034A>G

1 paper

NM_000416.3

p.V343L

c.1027G>C