Varaico: Literature-Extracted Genetic Variants

Gene:BPNT2
Variant:p.L38L

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
1 paper
NM_017813.5
p.L38L
c.114C>G
Surrounding Variants
1 paper
NM_017813.5
p.G46V
c.137G>T
1 paper
NM_017813.5
p.A55P
c.163G>C
1 paper
NM_017813.5
p.M66I
c.198G>T
1 paper
NM_017813.5
p.M66I
c.198G>C
1 paper
NM_017813.5
p.M66I
c.198G>A
1 paper
NM_017813.5
p.A73P
c.217G>C
1 paper
NM_017813.5
p.A102P
c.304G>C
1 paper
NM_017813.5
p.A102V
c.305C>T
1 paper
NM_017813.5
p.S108delFs
c.324delG
1 paper
NM_017813.5
p.D110A
c.329A>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."