Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.L122F

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
1 paper
NM_007198.4
p.L122F
c.366G>C
Surrounding Variants
1 paper
NM_007198.4
p.L122F
c.366G>T
6 papers
NM_007198.4
p.D124_K125delFs
c.370_373del4
1 paper
NM_007198.4
p.D124fs
c.370_371fs
5 papers
NM_007198.4
p.D124fs
c.370_371fs
3 papers
NM_007198.4
p.T116I
c.347C>T
1 paper
NM_007198.4
p.S129Y
c.386C>A
2 papers
NM_007198.4
p.M113T
c.338T>C
1 paper
NM_007198.4
p.V108delFs
c.322delG
9 papers
NM_007198.4
p.A107Splc
c.320-2A>G
1 paper
NM_007198.4
p.L139*
c.416T>A
1 paper
NM_007198.4
p.L139*
c.416T>G
1 paper
NM_007198.4
p.G149_E150delFs
c.445_448del4
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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."