Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.L42_V43delFs

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.L42_V43delFs
c.124_127del4
Surrounding Variants
8 papers
NM_007198.4
p.R41Q
c.122G>A
6 papers
NM_007198.4
p.R41W
c.121C>T
9 papers
NM_007198.4
p.P40L
c.119C>T
4 papers
NM_007198.4
p.V45D
c.134T>A
1 paper
NM_007198.4
p.S46_K47insCA
c.136_140ins6
1 paper
NM_007198.4
p.M53V
c.157A>G
6 papers
NM_007198.4
p.E67K
c.199G>A
1 paper
NM_007198.4
p.Y69del1
c.205_206delTAC
7 papers
NM_007198.4
p.Y69C
c.206A>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
1 paper
NM_007198.4
p.V70I
c.208G>A
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