Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.G404Splc

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.G404Splc
c.1210+12G>C
Surrounding Variants
1 paper
NM_002526.4
p.N403D
c.1207A>G
1 paper
NM_002526.4
p.I398T
c.1193T>C
1 paper
NM_002526.4
p.I388M
c.1164T>G
1 paper
NM_002526.4
p.V384I
c.1150G>A
1 paper
NM_002526.4
p.W381*
c.1142G>A
4 papers
NM_002526.4
p.M379T
c.1136T>C
1 paper
NM_002526.4
p.D377Y
c.1129G>T
1 paper
NM_002526.4
p.T376T
c.1128G>A
1 paper
NM_002526.4
p.T376M
c.1127C>T
11 papers
NM_002526.4
p.T376A
c.1126A>G
1 paper
NM_002526.4
p.H375D
c.1123C>G
1 paper
NM_002526.4
p.L373R
c.1118T>G
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