Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.I229T

NT5E

232 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant...

Pfam Domains

Metallophosaa 29–247UCSCCalcineurin-like phosphoesterase
5_nucleotid_Caa 336–513UCSC5'-nucleotidase, C-terminal domain

Gene Aliases

HGNC Name

5'-nucleotidase ecto

HGNC Previous Symbol

NT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002526.4
p.I229T
c.686T>C
Surrounding Variants
1 paper
NM_002526.4
p.A230P
c.688G>C
1 paper
NM_002526.4
p.L228F
c.682C>T
1 paper
NM_002526.4
p.R234insFs
c.701_702insA
1 paper
NM_002526.4
p.G235C
c.703G>T
1 paper
NM_002526.4
p.F223insFs
c.668_669insA
1 paper
NM_002526.4
p.V236V
c.708G>A
9 papers
NM_002526.4
p.S221*
c.662C>A
1 paper
NM_002526.4
p.D237E
c.711C>A
3 papers
NM_002526.4
p.D237_V238insFs
c.711_712insGG
1 paper
NM_002526.4
p.G241R
c.721G>A
2 papers
NM_002526.4
p.G241R
c.721G>C
1 paper
NM_002526.4
p.S244C
c.731C>G
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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."