Varaico: Literature-Extracted Genetic Variants

Gene:PRODH2
Variant:p.L105P

PRODH2

23 papers

RefSeq Summary

The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downst...

Pfam Domains

Pro_dhaa 152–438UCSCProline dehydrogenase

Gene Aliases

HGNC Name

proline dehydrogenase 2

HGNC Alias Symbol

HSPOX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021232.2
p.L105P
c.314T>C
Surrounding Variants
1 paper
NM_021232.2
p.L76R
c.227T>G
1 paper
NM_021232.2
p.V161L
c.481G>T
1 paper
NM_021232.2
p.V161L
c.481G>C
1 paper
NM_021232.2
p.R179fs
c.535_536fs
1 paper
NM_021232.2
p.G198_Q199Fs
c.594_597delinsGAAFs
1 paper
NM_021232.2
p.N207_A208Fs
c.621_624delinsGAAFs
1 paper
NM_021232.2
p.E209Q
c.625G>C
2 papers
NM_021232.2
p.A228D
c.683C>A
1 paper
NM_021232.2
p.Q231*
c.691C>T
1 paper
NM_021232.2
p.H232Y
c.694C>T
1 paper
NM_021232.2
p.A247del1
c.739_741delCGC
1 paper
NM_021232.2
p.P246_A247delFs
c.737_741del5
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