Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1A
Variant:p.P12S

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.P12S
c.34C>T
Surrounding Variants
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
1 paper
NM_032526.3
p.L37L
c.111C>A
1 paper
NM_032526.3
p.R59*
c.175C>T
1 paper
NM_032526.3
p.L61L
c.183G>A
1 paper
NM_032526.3
p.R63R
c.189C>T
1 paper
NM_032526.3
p.R63fs
c.187_188fs
1 paper
NM_032526.3
p.R63_D65delFs
c.189_195del7
4 papers
NM_032526.3
p.T72S
c.214A>T
1 paper
NM_032526.3
p.T72M
c.215C>T
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