Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.S246R

IL7R

720 papers

RefSeq Summary

The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by ...

Pfam Domains

FN3_7aa 32–127UCSCFibronectin type III domain
fn3aa 130–224UCSCFibronectin type III domain

Gene Aliases

HGNC Name

interleukin 7 receptor

HGNC Alias Symbols

CD127; IL7RA; lnc-IL7R; IL-7Ralpha; IL7Ralpha; sIL-7R; CDw127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002185.5
p.S246R
c.738C>G
Surrounding Variants
1 paper
NM_002185.5
p.S246R
c.738C>A
1 paper
NM_002185.5
p.L248delFs
c.743delT
2 papers
NM_002185.5
p.S246T
c.737G>C
1 paper
NM_002185.5
p.S246ins3
c.736_737ins9
2 papers
NM_002185.5
p.S246fs
c.736_737fs
1 paper
NM_002185.5
p.S246R
c.736A>C
1 paper
NM_002185.5
p.I247S
c.740T>G
1 paper
NM_002185.5
p.I245M
c.735C>G
1 paper
NM_002185.5
p.I245I
c.735C>T
1 paper
NM_002185.5
p.I247Fs
c.741delinsCCFs
1 paper
NM_002185.5
p.I245N
c.734T>A
1 paper
NM_002185.5
p.I245_L248delins
c.734_742delinsCCA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."