Varaico: Literature-Extracted Genetic Variants

Gene:L3HYPDH
Variant:p.A302E

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.A302E
c.905C>A
Surrounding Variants
1 paper
NM_144581.2
p.A311fs
c.931_932fs
1 paper
NM_144581.2
p.A311delFs
c.931delC
1 paper
NM_144581.2
p.K254R
c.761A>G
1 paper
NM_144581.2
p.D247N
c.739G>A
1 paper
NM_144581.2
p.F227L
c.681T>G
1 paper
NM_144581.2
p.F227L
c.681T>A
1 paper
NM_144581.2
p.F227L
c.679T>C
1 paper
NM_144581.2
p.A315V
c.944C>T
1 paper
NM_144581.2
p.C317F
c.950G>T
1 paper
NM_144581.2
p.T334M
c.1001C>T
3 papers
NM_144581.2
p.I341V
c.1021A>G
1 paper
NM_144581.2
p.V142fs
c.424_425fs
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