Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.D318N

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.D318N
c.952G>A
Surrounding Variants
1 paper
NM_002185.5
p.R317_D318insFs
c.951_952ins4
1 paper
NM_002185.5
p.E319*
c.955G>T
1 paper
NM_002185.5
p.Q315*
c.943C>T
1 paper
NM_002185.5
p.D313G
c.938A>G
1 paper
NM_002185.5
p.D313_R317del5
c.937_950del15
1 paper
NM_002185.5
p.D312H
c.934G>C
1 paper
NM_002185.5
p.L324P
c.971T>C
1 paper
NM_002185.5
p.Q325*
c.973C>T
1 paper
NM_002185.5
p.Q325R
c.974A>G
1 paper
NM_002185.5
p.D326E
c.978T>G
3 papers
NM_002185.5
p.T327M
c.980C>T
1 paper
NM_002185.5
p.F328fs
c.982_983fs
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