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.S306*

c.917C>A

Surrounding Variants

1 paper

NM_000416.3

p.S306*

c.917C>G

3 papers

NM_000416.3

p.T295_S306del12

c.883_917del36

2 papers

NM_000416.3

p.K303_Y304insFs

c.909_910insA

1 paper

NM_000416.3

p.I308insFs

c.923dupT

2 papers

NM_000416.3

p.T309M

c.926C>T

1 paper

NM_000416.3

p.Y311S

c.932A>C

1 paper

NM_000416.3

p.Y311*

c.933C>G

1 paper

NM_000416.3

p.Y311*

c.933C>A

1 paper

NM_000416.3

p.Y311_Q312del1

c.933_935delTGG

1 paper

NM_000416.3

p.P313insFs

c.938_939insT

2 papers

NM_000416.3

p.S315_L316insA

c.943_947ins3

1 paper

NM_000416.3

p.S315F

c.944C>T