Varaico: Literature-Extracted Genetic Variants

Gene:IL6R
Variant:p.P48delFs

IL6R

691 papers

RefSeq Summary

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in th...

Pfam Domains

igaa 34–99UCSCImmunoglobulin domain
IL6Ra-bindaa 118–213UCSCInterleukin-6 receptor alpha chain, binding

Gene Aliases

HGNC Name

interleukin 6 receptor

HGNC Alias Symbols

CD126; IL-6R; IL-1Ra; IL6RA; gp80

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000565.4
p.P48delFs
c.144delG
Surrounding Variants
1 paper
NM_000565.4
p.P48fs
c.142_143fs
1 paper
NM_000565.4
p.C47*
c.141C>A
1 paper
NM_000565.4
p.C47W
c.141C>G
1 paper
NM_000565.4
p.G49E
c.146G>A
1 paper
NM_000565.4
p.G49G
c.147G>C
2 papers
NM_000565.4
p.T46S
c.137C>G
1 paper
NM_000565.4
p.V50A
c.149T>C
1 paper
NM_000565.4
p.P52S
c.154C>T
1 paper
NM_000565.4
p.T44S
c.130A>T
1 paper
NM_000565.4
p.V43M
c.127G>A
1 paper
NM_000565.4
p.D54V
c.161A>T
1 paper
NM_000565.4
p.A56S
c.166G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."