Varaico: Literature-Extracted Genetic Variants

Gene:P3H4
Variant:p.Q186R

P3H4

29 papers

RefSeq Summary

This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the...

Pfam Domains

TPR_leprecanaa 35–340UCSCLeprecan family TPR-like repeat region

Gene Aliases

HGNC Name

prolyl 3-hydroxylase family member 4 (inactive)

HGNC Previous Symbol

LEPREL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_006455.3
p.Q186R
c.557A>G
Surrounding Variants
1 paper
NM_006455.3
p.R157L
c.470G>T
1 paper
NM_006455.3
p.A211S
c.631G>T
1 paper
NM_006455.3
p.E225V
c.674A>T
1 paper
NM_006455.3
p.A230S
c.688G>T
1 paper
NM_006455.3
p.A243T
c.727G>A
1 paper
NM_006455.3
p.D138H
c.412G>C
1 paper
NM_006455.3
p.A113V
c.338C>T
1 paper
NM_006455.3
p.R108G
c.322C>G
2 papers
NM_006455.3
p.K290N
c.870G>T
2 papers
NM_006455.3
p.K290N
c.870G>C
1 paper
NM_006455.3
p.A317T
c.949G>A
1 paper
NM_006455.3
p.E347K
c.1039G>A
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