Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.K432Q

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.K432Q
c.1294A>C
Surrounding Variants
1 paper
NM_002526.4
p.K433T
c.1298A>C
1 paper
NM_002526.4
p.A434G
c.1301C>G
1 paper
NM_002526.4
p.V439M
c.1315G>A
1 paper
NM_002526.4
p.H440Y
c.1318C>T
1 paper
NM_002526.4
p.R441S
c.1321C>A
1 paper
NM_002526.4
p.F421Y
c.1262T>A
1 paper
NM_002526.4
p.A412A
c.1236T>C
3 papers
NM_002526.4
p.G454R
c.1360G>A
3 papers
NM_002526.4
p.G454R
c.1360G>C
1 paper
NM_002526.4
p.T407T
c.1221C>G
1 paper
NM_002526.4
p.T407T
c.1221C>T
1 paper
NM_002526.4
p.T407I
c.1220C>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."