Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.L190F

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.L190F
c.568C>T
Surrounding Variants
1 paper
NM_002185.5
p.L191M
c.571C>A
1 paper
NM_002185.5
p.Q192fs
c.574_575fs
2 papers
NM_002185.5
p.L188V
c.562C>G
1 paper
NM_002185.5
p.Q192_K194delFs
c.576_582del7
1 paper
NM_002185.5
p.K187K
c.561G>A
4 papers
NM_002185.5
p.L188delFs
c.562delC
1 paper
NM_002185.5
p.Q192H
c.576G>C
1 paper
NM_002185.5
p.Q192H
c.576G>T
1 paper
NM_002185.5
p.T186I
c.557C>T
1 paper
NM_002185.5
p.K194insFs
c.580_581insT
1 paper
NM_002185.5
p.K194Fs
c.581_582delinsTFs
1 paper
NM_002185.5
p.S185I
c.554G>T
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