Varaico: Literature-Extracted Genetic Variants

Gene:PHYKPL
Variant:p.T302I

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.T302I
c.905C>T
Surrounding Variants
1 paper
NM_153373.4
p.A287G
c.860C>G
1 paper
NM_153373.4
p.V286D
c.857T>A
1 paper
NM_153373.4
p.G283S
c.847G>A
1 paper
NM_153373.4
p.W260*
c.780G>A
1 paper
NM_153373.4
p.W260*
c.779G>A
1 paper
NM_153373.4
p.G253G
c.759C>T
1 paper
NM_153373.4
p.D246E
c.738T>G
1 paper
NM_153373.4
p.D246E
c.738T>A
1 paper
NM_153373.4
p.D246H
c.736G>C
1 paper
NM_153373.4
p.G241V
c.722G>T
3 papers
NM_153373.4
p.G240R
c.718G>C
3 papers
NM_153373.4
p.G240R
c.718G>A
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