Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.P430S

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.P430S
c.1288C>T
Surrounding Variants
1 paper
NM_002185.5
p.P430L
c.1289C>T
1 paper
NM_002185.5
p.A432D
c.1295C>A
1 paper
NM_002185.5
p.Q433H
c.1299G>C
1 paper
NM_002185.5
p.Q433H
c.1299G>T
1 paper
NM_002185.5
p.L426_T427insFs
c.1278_1279insG
1 paper
NM_002185.5
p.G434D
c.1301G>A
1 paper
NM_002185.5
p.I425T
c.1274T>C
1 paper
NM_002185.5
p.G424_I425insFs
c.1272_1273ins4
3 papers
NM_002185.5
p.G424V
c.1271G>T
1 paper
NM_002185.5
p.S423C
c.1268C>G
2 papers
NM_002185.5
p.I437_L438del2
c.1309_1313del6
1 paper
NM_002185.5
p.L421L
c.1263C>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."