Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.E72*

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.E72*
c.214G>T
Surrounding Variants
2 papers
NM_002185.5
p.E72Q
c.214G>C
2 papers
NM_002185.5
p.F71S
c.212T>C
1 paper
NM_002185.5
p.I73K
c.218T>A
1 paper
NM_002185.5
p.E70_F71ins10
c.208_212ins30
1 paper
NM_002185.5
p.E70*
c.208G>T
2 papers
NM_002185.5
p.C74G
c.220T>G
3 papers
NM_002185.5
p.C74Y
c.221G>A
2 papers
NM_002185.5
p.C74Splc
c.221+1G>A
1 paper
NM_002185.5
p.C74*
c.222T>A
2 papers
NM_002185.5
p.L69P
c.206T>C
3 papers
NM_002185.5
p.C74Splc
c.221+2T>A
9 papers
NM_002185.5
p.C74Splc
c.221+2T>G
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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."