Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1A
Variant:p.R207R

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
Selected Variant
1 paper
NM_032526.3
p.R207R
c.621C>T
Surrounding Variants
1 paper
NM_032526.3
p.D211N
c.631G>A
3 papers
NM_032526.3
p.A214T
c.640G>A
1 paper
NM_032526.3
p.F217S
c.650T>C
1 paper
NM_032526.3
p.S218L
c.653C>T
1 paper
NM_032526.3
p.A189_P195del7
c.565_584del21
1 paper
NM_032526.3
p.E220K
c.658G>A
1 paper
NM_032526.3
p.I192M
c.576C>G
1 paper
NM_032526.3
p.V225G
c.674T>G
1 paper
NM_032526.3
p.G186G
c.558G>A
1 paper
NM_032526.3
p.G186Splc
c.557-2A>G
1 paper
NM_032526.3
p.N242D
c.724A>G
1 paper
NM_032526.3
p.E241delFs
c.722_723delCT
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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."