Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.L552P

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.L552P
c.1655T>C
Surrounding Variants
1 paper
NM_000629.3
p.V557L
c.1669G>C
1 paper
NM_000629.3
p.V557L
c.1669G>T
1 paper
NM_000629.3
p.E541K
c.1621G>A
1 paper
NM_000629.3
p.S539A
c.1615T>G
1 paper
NM_000629.3
p.Y538F
c.1613A>T
5 papers
NM_000629.3
p.S535A
c.1603T>G
1 paper
NM_000629.3
p.T531S
c.1592C>G
1 paper
NM_000629.3
p.T531S
c.1591A>T
1 paper
NM_000629.3
p.S529A
c.1585T>G
1 paper
NM_000629.3
p.Y527F
c.1580A>T
1 paper
NM_000629.3
p.K526R
c.1577A>G
1 paper
NM_000629.3
p.K525R
c.1574A>G
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