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.I37_E38insFs

c.111_112insC

Surrounding Variants

1 paper

NM_000416.3

p.I37M

c.111T>G

1 paper

NM_000416.3

p.I37insFs

c.110_111insC

1 paper

NM_000416.3

p.I37S

c.110T>G

7 papers

NM_000416.3

p.I37T

c.110T>C

1 paper

NM_000416.3

p.I37fs

c.109_110fs

1 paper

NM_000416.3

p.I37V

c.109A>G

2 papers

NM_000416.3

p.V35_T36insFs

c.104_107dup4

1 paper

NM_000416.3

p.T36I

c.107C>T

2 papers

NM_000416.3

p.S39fs

c.115_116fs

4 papers

NM_000416.3

p.T36insFs

c.106_107insT

1 paper

NM_000416.3

p.T36fs

c.106_107fs

1 paper

NM_000416.3

p.V35L

c.103G>C