Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.N232fs

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.N232fs
c.694_695fs
Surrounding Variants
1 paper
NM_002185.5
p.N232_N233insFs
c.696_697insT
1 paper
NM_002185.5
p.N232_N233del2
c.694_698del6
1 paper
NM_002185.5
p.E230D
c.690G>C
1 paper
NM_002185.5
p.E230D
c.690G>T
2 papers
NM_002185.5
p.S234N
c.701G>A
1 paper
NM_002185.5
p.P229L
c.686C>T
2 papers
NM_002185.5
p.S235*
c.704C>A
4 papers
NM_002185.5
p.S235*
c.704C>G
1 paper
NM_002185.5
p.T228N
c.683C>A
1 paper
NM_002185.5
p.G236E
c.707G>A
1 paper
NM_002185.5
p.Y225*
c.675C>A
1 paper
NM_002185.5
p.Y225*
c.675C>G
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