Varaico: Literature-Extracted Genetic Variants

Gene:PHYKPL
Variant:p.T434S

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.T434S
c.1300A>T
Surrounding Variants
1 paper
NM_153373.4
p.M415V
c.1243A>G
1 paper
NM_153373.4
p.P414A
c.1240C>G
6 papers
NM_153373.4
p.E437V
c.1310A>T
1 paper
NM_153373.4
p.T382S
c.1145C>G
1 paper
NM_153373.4
p.T382S
c.1144A>T
1 paper
NM_153373.4
p.L365P
c.1094T>C
1 paper
NM_153373.4
p.K351R
c.1052A>G
1 paper
NM_153373.4
p.Q345*
c.1033C>T
1 paper
NM_153373.4
p.S341N
c.1022G>A
1 paper
NM_153373.4
p.L324P
c.971T>C
1 paper
NM_153373.4
p.G312V
c.935G>T
1 paper
NM_153373.4
p.T302I
c.905C>T
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