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

25 papers

NM_000416.3

p.V14M

c.40G>A

Surrounding Variants

1 paper

NM_000416.3

p.V14A

c.41T>C

1 paper

NM_000416.3

p.G13D

c.38G>A

2 papers

NM_000416.3

p.G13C

c.37G>T

1 paper

NM_000416.3

p.G13S

c.37G>A

1 paper

NM_000416.3

p.V14insFs

c.42dupG

1 paper

NM_000416.3

p.Q12_S15delFs

c.35_44del10

2 papers

NM_000416.3

p.R16W

c.46A>T

1 paper

NM_000416.3

p.M11T

c.32T>C

1 paper

NM_000416.3

p.R16R

c.48G>A

2 papers

NM_000416.3

p.V10fs

c.28_29fs

1 paper

NM_000416.3

p.L9P

c.26T>C

8 papers

NM_000416.3

p.P8delFs

c.22delG