Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.R306H

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
1 paper
NM_000629.3
p.R306H
c.917G>A
Surrounding Variants
1 paper
NM_000629.3
p.V307I
c.919G>A
1 paper
NM_000629.3
p.L305V
c.913C>G
4 papers
NM_000629.3
p.Q308*
c.922C>T
1 paper
NM_000629.3
p.G301E
c.902G>A
1 paper
NM_000629.3
p.G301R
c.901G>A
1 paper
NM_000629.3
p.G301R
c.901G>C
2 papers
NM_000629.3
p.G312*
c.934G>T
1 paper
NM_000629.3
p.T315P
c.943A>C
1 paper
NM_000629.3
p.S316T
c.946T>A
1 paper
NM_000629.3
p.S316P
c.946T>C
2 papers
NM_000629.3
p.W318C
c.954G>C
2 papers
NM_000629.3
p.W318C
c.954G>T
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