Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1A

NT5C1A

76 papers

RefSeq Summary

Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008].

Pfam Domains

5-nucleotidaseaa 44–354UCSC5'-nucleotidase

Gene Aliases

HGNC Name

5'-nucleotidase, cytosolic IA

HGNC Alias Symbols

CN-I; CN-IA; CN1A; CN1; MGC119199; MGC119201

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
4 papers
NM_032526.3
p.T72S
c.214A>T
4 papers
NM_032526.3
p.R322H
c.965G>A
3 papers
NM_032526.3
p.A214T
c.640G>A
3 papers
NM_032526.3
p.S366A
c.1096T>G
2 papers
NM_032526.3
p.I275V
c.823A>G
2 papers
NM_032526.3
p.G336E
c.1007G>A
2 papers
NM_032526.3
p.A344S
c.1030G>T
1 paper
NM_032526.3
p.P12S
c.34C>T
1 paper
NM_032526.3
p.P25R
c.74C>G
1 paper
NM_032526.3
p.Y34C
c.101A>G
1 paper
NM_032526.3
p.Y34*
c.102C>G
1 paper
NM_032526.3
p.Y34*
c.102C>A
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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."