Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1A
Variant:p.R291W

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.R291W
c.871C>T
Surrounding Variants
1 paper
NM_032526.3
p.R291Q
c.872G>A
1 paper
NM_032526.3
p.G289W
c.865G>T
1 paper
NM_032526.3
p.A285V
c.854C>T
1 paper
NM_032526.3
p.L293_R297delFs
c.878_890del13
1 paper
NM_032526.3
p.R283C
c.847C>T
1 paper
NM_032526.3
p.D304N
c.910G>A
1 paper
NM_032526.3
p.I275F
c.823A>T
2 papers
NM_032526.3
p.I275V
c.823A>G
1 paper
NM_032526.3
p.R270Q
c.809G>A
1 paper
NM_032526.3
p.L269M
c.805C>A
1 paper
NM_032526.3
p.K314E
c.940A>G
1 paper
NM_032526.3
p.K320E
c.958A>G
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