Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.Y481F

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.Y481F
c.1442A>T
Surrounding Variants
1 paper
NM_000629.3
p.Y481fs
c.1441_1442fs
1 paper
NM_000629.3
p.E480_Y481Splc
c.1441-1G>A
1 paper
NM_000629.3
p.E484K
c.1450G>A
1 paper
NM_000629.3
p.E484Q
c.1450G>C
1 paper
NM_000629.3
p.E496A
c.1487A>C
1 paper
NM_000629.3
p.E497A
c.1490A>C
1 paper
NM_000629.3
p.E500A
c.1499A>C
1 paper
NM_000629.3
p.K501Q
c.1501A>C
1 paper
NM_000629.3
p.K501R
c.1502A>G
1 paper
NM_000629.3
p.K525R
c.1574A>G
1 paper
NM_000629.3
p.K526R
c.1577A>G
1 paper
NM_000629.3
p.Y527F
c.1580A>T
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