Varaico: Literature-Extracted Genetic Variants

Gene:PRODH2
Variant:p.H318R

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.H318R
c.953A>G
Surrounding Variants
1 paper
NM_021232.2
p.Q316fs
c.946_947fs
1 paper
NM_021232.2
p.A315V
c.944C>T
1 paper
NM_021232.2
p.P323L
c.968C>T
1 paper
NM_021232.2
p.L296L
c.886C>T
1 paper
NM_021232.2
p.A290delFs
c.868delC
1 paper
NM_021232.2
p.D287V
c.860A>T
1 paper
NM_021232.2
p.R286S
c.858G>T
1 paper
NM_021232.2
p.R286S
c.858G>C
1 paper
NM_021232.2
p.L277L
c.829C>T
1 paper
NM_021232.2
p.L255L
c.763C>T
1 paper
NM_021232.2
p.P246_A247delFs
c.737_741del5
1 paper
NM_021232.2
p.A247del1
c.739_741delCGC
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