Varaico: Literature-Extracted Genetic Variants

Gene:BPNT1
Variant:p.P118S

BPNT1

34 papers

RefSeq Summary

BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an unco...

Pfam Domains

Inositol_Paa 8–303UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

3'(2'), 5'-bisphosphate nucleotidase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006085.6
p.P118S
c.352C>T
Surrounding Variants
1 paper
NM_006085.6
p.L129F
c.385C>T
2 papers
NM_006085.6
p.G148E
c.443G>A
1 paper
NM_006085.6
p.E158K
c.472G>A
1 paper
NM_006085.6
p.S79insFs
c.237dupT
1 paper
NM_006085.6
p.M56I
c.168G>T
1 paper
NM_006085.6
p.M56I
c.168G>C
1 paper
NM_006085.6
p.M56I
c.168G>A
1 paper
NM_006085.6
p.R52Q
c.155G>A
1 paper
NM_006085.6
p.R52*
c.154C>T
2 papers
NM_006085.6
p.D51A
c.152A>C
1 paper
NM_006085.6
p.V172F
c.514G>T
1 paper
NM_006085.6
p.A177T
c.529G>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."