Varaico: Literature-Extracted Genetic Variants

Gene:PHYKPL
Variant:p.F27insFs

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.F27insFs
c.81dupT
Surrounding Variants
1 paper
NM_153373.4
p.P28fs
c.82_83fs
1 paper
NM_153373.4
p.D30H
c.88G>C
1 paper
NM_153373.4
p.Q16*
c.46C>T
1 paper
NM_153373.4
p.Q5R
c.14A>G
3 papers
NM_153373.4
p.N88D
c.262A>G
1 paper
NM_153373.4
p.P101T
c.301C>A
1 paper
NM_153373.4
p.Q103P
c.308A>C
1 paper
NM_153373.4
p.S114L
c.341C>T
1 paper
NM_153373.4
p.G142S
c.424G>A
1 paper
NM_153373.4
p.H143R
c.428A>G
1 paper
NM_153373.4
p.R156C
c.466C>T
1 paper
NM_153373.4
p.W164*
c.491G>A
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