Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.V70fs

PLPBP

63 papers

RefSeq Summary

This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular ca...

Pfam Domains

Ala_racemase_Naa 16–251UCSCAlanine racemase, N-terminal domain

Gene Aliases

HGNC Name

pyridoxal phosphate binding protein

HGNC Previous Symbol

PROSC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007198.4
p.V70fs
c.208_209fs
Surrounding Variants
1 paper
NM_007198.4
p.V70I
c.208G>A
4 papers
NM_007198.4
p.Q71*
c.211C>T
1 paper
NM_007198.4
p.A77E
c.230C>A
5 papers
NM_007198.4
p.S78*
c.233C>A
4 papers
NM_007198.4
p.S78*
c.233C>G
5 papers
NM_007198.4
p.Y69_V70Splc
c.207+1G>A
2 papers
NM_007198.4
p.Y69_V70Splc
c.207+1G>T
7 papers
NM_007198.4
p.Y69C
c.206A>G
1 paper
NM_007198.4
p.Y69del1
c.205_206delTAC
6 papers
NM_007198.4
p.E67K
c.199G>A
1 paper
NM_007198.4
p.M53V
c.157A>G
1 paper
NM_007198.4
p.S46_K47insCA
c.136_140ins6
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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."