Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.F247S

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.F247S
c.740T>C
Surrounding Variants
3 papers
NM_002526.4
p.L248_Y249insFs
c.744_745insGG
1 paper
NM_002526.4
p.N245S
c.734A>G
1 paper
NM_002526.4
p.S244C
c.731C>G
1 paper
NM_002526.4
p.S244F
c.731C>T
2 papers
NM_002526.4
p.G251Splc
c.751+2T>C
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.D237E
c.711C>A
3 papers
NM_002526.4
p.D237_V238insFs
c.711_712insGG
1 paper
NM_002526.4
p.V236V
c.708G>A
1 paper
NM_002526.4
p.G235C
c.703G>T
1 paper
NM_002526.4
p.R234insFs
c.701_702insA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."