Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.E129K

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.E129K
c.385G>A
Surrounding Variants
4 papers
NM_002526.4
p.E129insFs
c.385_386insA
5 papers
NM_002526.4
p.L131P
c.392T>C
1 paper
NM_002526.4
p.E125K
c.373G>A
1 paper
NM_002526.4
p.E125Q
c.373G>C
1 paper
NM_002526.4
p.E125*
c.373G>T
1 paper
NM_002526.4
p.G123D
c.368G>A
1 paper
NM_002526.4
p.K136K
c.408A>G
1 paper
NM_002526.4
p.D121_N122delFs
c.363_364delTA
1 paper
NM_002526.4
p.H118R
c.353A>G
2 papers
NM_002526.4
p.H118insFs
c.352_353insA
1 paper
NM_002526.4
p.L140L
c.420G>T
1 paper
NM_002526.4
p.G116G
c.348A>T
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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."