Varaico: Literature-Extracted Genetic Variants

Gene:BPNT2
Variant:p.T183P

BPNT2

32 papers

RefSeq Summary

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine...

Pfam Domains

Inositol_Paa 62–355UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

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

HGNC Previous Symbol

IMPAD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_017813.5
p.T183P
c.547A>C
Surrounding Variants
5 papers
NM_017813.5
p.D177N
c.529G>A
2 papers
NM_017813.5
p.V158insFs
c.473_474dupTA
4 papers
NM_017813.5
p.R187*
c.559C>T
1 paper
NM_017813.5
p.V196L
c.586G>T
1 paper
NM_017813.5
p.V196L
c.586G>C
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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."