Varaico: Literature-Extracted Genetic Variants

Gene:L3HYPDH
Variant:p.S21*

L3HYPDH

25 papers

RefSeq Summary

The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3...

Pfam Domains

Pro_racemaseaa 22–352UCSCProline racemase

Gene Aliases

HGNC Name

trans-L-3-hydroxyproline dehydratase

HGNC Previous Symbol

C14orf149

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144581.2
p.S21*
c.62C>A
Surrounding Variants
1 paper
NM_144581.2
p.R9W
c.25C>T
1 paper
NM_144581.2
p.V7M
c.19G>A
1 paper
NM_144581.2
p.G44G
c.132G>A
1 paper
NM_144581.2
p.Y53Y
c.159C>T
1 paper
NM_144581.2
p.H72R
c.215A>G
1 paper
NM_144581.2
p.G77V
c.230G>T
1 paper
NM_144581.2
p.A78T
c.232G>A
1 paper
NM_144581.2
p.P82P
c.246G>C
1 paper
NM_144581.2
p.E84*
c.250G>T
1 paper
NM_144581.2
p.E130K
c.388G>A
1 paper
NM_144581.2
p.C137*
c.411C>A
1 paper
NM_144581.2
p.V142fs
c.424_425fs
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