Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.G243R

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.G243R
c.727G>A
Surrounding Variants
2 papers
NM_007198.4
p.G243R
c.727G>C
1 paper
NM_007198.4
p.I242T
c.725T>C
12 papers
NM_007198.4
p.R241Q
c.722G>A
1 paper
NM_007198.4
p.T245M
c.734C>T
1 paper
NM_007198.4
p.I246_E249del4
c.736_746del12
3 papers
NM_007198.4
p.E249_Y252del4
c.745_755del12
1 paper
NM_007198.4
p.R250delFs
c.748_749delCG
1 paper
NM_007198.4
p.R250R
c.750G>A
2 papers
NM_007198.4
p.V235G
c.704T>G
1 paper
NM_007198.4
p.V233G
c.698T>G
1 paper
NM_007198.4
p.Q273Q
c.819G>A
4 papers
NM_007198.4
p.H275D
c.823C>G
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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."