Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.Q330H

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.Q330H
c.990G>C
Surrounding Variants
1 paper
NM_002185.5
p.Q330H
c.990G>T
1 paper
NM_002185.5
p.Q331K
c.991C>A
1 paper
NM_002185.5
p.Q331*
c.991C>T
1 paper
NM_002185.5
p.Q330*
c.988C>T
1 paper
NM_002185.5
p.P329S
c.985C>T
1 paper
NM_002185.5
p.E333*
c.997G>T
1 paper
NM_002185.5
p.F328fs
c.982_983fs
3 papers
NM_002185.5
p.T327M
c.980C>T
1 paper
NM_002185.5
p.E334K
c.1000G>A
1 paper
NM_002185.5
p.D326E
c.978T>G
1 paper
NM_002185.5
p.S335P
c.1003T>C
1 paper
NM_002185.5
p.S335Fs
c.1003delinsGAFs
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