Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.V168L

IFNAR1

203 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus pro...

Pfam Domains

Tissue_facaa 4–115UCSCTissue factor
Interfer-bindaa 126–224UCSCInterferon-alpha/beta receptor, fibronectin type III
Interfer-bindaa 330–430UCSCInterferon-alpha/beta receptor, fibronectin type III

Gene Aliases

HGNC Name

interferon alpha and beta receptor subunit 1

HGNC Alias Symbol

IFRC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_000629.3
p.V168L
c.502G>C
Surrounding Variants
1 paper
NM_000629.3
p.I169delFs
c.505delA
1 paper
NM_000629.3
p.I169fs
c.505_506fs
2 papers
NM_000629.3
p.I169delFs
c.506delT
1 paper
NM_000629.3
p.I169fs
c.505_506fs
1 paper
NM_000629.3
p.S166C
c.496A>T
1 paper
NM_000629.3
p.S162G
c.484A>G
1 paper
NM_000629.3
p.L158L
c.474G>A
1 paper
NM_000629.3
p.M155I
c.465G>A
1 paper
NM_000629.3
p.M155I
c.465G>C
1 paper
NM_000629.3
p.M155I
c.465G>T
1 paper
NM_000629.3
p.M155insFs
c.464_465ins4
1 paper
NM_000629.3
p.D152V
c.455A>T
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