Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.Y87C

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.Y87C
c.260A>G
Surrounding Variants
2 papers
NM_002526.4
p.Y87F
c.260A>T
2 papers
NM_002526.4
p.G84_D85insFs
c.252_253insA
1 paper
NM_002526.4
p.I91S
c.272T>G
1 paper
NM_002526.4
p.D82insFs
c.244_245ins4
2 papers
NM_002526.4
p.R73_A74insFs
c.219_220insA
1 paper
NM_002526.4
p.A102A
c.306G>C
1 paper
NM_002526.4
p.H103Y
c.307C>T
1 paper
NM_002526.4
p.V68I
c.202G>A
1 paper
NM_002526.4
p.D111E
c.333T>A
2 papers
NM_002526.4
p.M113I
c.339G>C
1 paper
NM_002526.4
p.M113_A114Splc
c.339+1G>A
1 paper
NM_002526.4
p.C57C
c.171C>T
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