Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.S443*

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.S443*
c.1328C>A
Surrounding Variants
1 paper
NM_002185.5
p.S443*
c.1328C>G
1 paper
NM_002185.5
p.N444Y
c.1330A>T
1 paper
NM_002185.5
p.Q445_E446insGG
c.1333_1337ins6
1 paper
NM_002185.5
p.L441R
c.1322T>G
1 paper
NM_002185.5
p.L441fs
c.1321_1322fs
1 paper
NM_002185.5
p.S440F
c.1319C>T
1 paper
NM_002185.5
p.S440delFs
c.1319delC
3 papers
NM_002185.5
p.T439S
c.1316C>G
4 papers
NM_002185.5
p.T439S
c.1315A>T
1 paper
NM_002185.5
p.Y449_V450insT
c.1345_1349ins3
4 papers
NM_002185.5
p.Y449F
c.1346A>T
2 papers
NM_002185.5
p.I437_L438del2
c.1309_1313del6
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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."