Varaico: Literature-Extracted Genetic Variants

Gene:PHYKPL
Variant:p.R195H

PHYKPL

40 papers

RefSeq Summary

This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene...

Pfam Domains

Aminotran_3aa 28–433UCSCAminotransferase class-III

Gene Aliases

HGNC Name

5-phosphohydroxy-L-lysine phospho-lyase

HGNC Previous Symbol

AGXT2L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153373.4
p.R195H
c.584G>A
Surrounding Variants
1 paper
NM_153373.4
p.Q201H
c.603G>T
1 paper
NM_153373.4
p.Q201H
c.603G>C
1 paper
NM_153373.4
p.W164*
c.492G>A
1 paper
NM_153373.4
p.W164*
c.491G>A
1 paper
NM_153373.4
p.R156C
c.466C>T
1 paper
NM_153373.4
p.H143R
c.428A>G
1 paper
NM_153373.4
p.G142S
c.424G>A
1 paper
NM_153373.4
p.S114L
c.341C>T
1 paper
NM_153373.4
p.A212T
c.634G>A
1 paper
NM_153373.4
p.R237R
c.711C>G
3 papers
NM_153373.4
p.G240R
c.718G>C
3 papers
NM_153373.4
p.G240R
c.718G>A
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