Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.Q389P

P3H3

1,024 papers

RefSeq Summary

The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembl...

Pfam Domains

TPR_leprecanaa 36–363UCSCLeprecan family TPR-like repeat region
2OG-FeII_Oxy_3aa 575–674UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 3-hydroxylase 3

HGNC Previous Symbol

LEPREL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_014262.5
p.Q389P
c.1166A>C
Surrounding Variants
1 paper
NM_014262.5
p.Y391*
c.1173C>A
1 paper
NM_014262.5
p.E386E
c.1158G>A
1 paper
NM_014262.5
p.S383S
c.1149C>G
1 paper
NM_014262.5
p.E395D
c.1185G>C
1 paper
NM_014262.5
p.E395D
c.1185G>T
1 paper
NM_014262.5
p.R382Q
c.1145G>A
1 paper
NM_014262.5
p.R382G
c.1144C>G
1 paper
NM_014262.5
p.L381P
c.1142T>C
1 paper
NM_014262.5
p.T399A
c.1195A>G
2 papers
NM_014262.5
p.D403_P404insT
c.1207_1211ins3
1 paper
NM_014262.5
p.D375Y
c.1123G>T
1 paper
NM_014262.5
p.R373K
c.1118G>A
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