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.K136fs

c.406_407fs

Surrounding Variants

1 paper

NM_000416.3

p.K136delFs

c.407delT

1 paper

NM_000416.3

p.I134M

c.402C>G

1 paper

NM_000416.3

p.Q140*

c.418C>T

1 paper

NM_000416.3

p.L132L

c.394C>T

2 papers

NM_000416.3

p.P129insFs

c.387dupA

1 paper

NM_000416.3

p.I143T

c.428T>C

1 paper

NM_000416.3

p.D144N

c.430G>A

1 paper

NM_000416.3

p.K126delFs

c.378delT

1 paper

NM_000416.3

p.P148R

c.443C>G

1 paper

NM_000416.3

p.P148H

c.443C>A

3 papers

NM_000416.3

p.S149L

c.446C>T

1 paper

NM_000416.3

p.S149*

c.446C>G