Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.N53D

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.N53D
c.157A>G
Surrounding Variants
1 paper
NM_002526.4
p.V52L
c.154G>C
1 paper
NM_002526.4
p.A54S
c.160G>T
1 paper
NM_002526.4
p.C51delFs
c.151delT
1 paper
NM_002526.4
p.R56R
c.168C>T
1 paper
NM_002526.4
p.C57C
c.171C>T
1 paper
NM_002526.4
p.E46E
c.138G>A
1 paper
NM_002526.4
p.S45C
c.133A>T
1 paper
NM_002526.4
p.L41insFs
c.121dupC
1 paper
NM_002526.4
p.R40W
c.118C>T
1 paper
NM_002526.4
p.V68I
c.202G>A
1 paper
NM_002526.4
p.N35N
c.105C>T
2 papers
NM_002526.4
p.R73_A74insFs
c.219_220insA
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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."