Varaico: Literature-Extracted Genetic Variants

Gene:PDXDC1
Variant:p.H96L

PDXDC1

30 papers

Pfam Domains

Pyridoxal_deCaa 166–319UCSCPyridoxal-dependent decarboxylase conserved domain
PDXDC1-like_cenaa 387–487UCSCPDXDC1-like central domain
PDXDC1-like_cenaa 387–493UCSCPDXDC1-like central domain
PDXDC1-like_cen2aa 499–604UCSCPDXDC1-like second central domain

Gene Aliases

HGNC Name

pyridoxal dependent decarboxylase domain containing 1

HGNC Alias Symbol

KIAA0251

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015027.4
p.H96L
c.287A>T
Surrounding Variants
4 papers
NM_015027.4
p.I82M
c.246C>G
1 paper
NM_015027.4
p.T114I
c.341C>T
1 paper
NM_015027.4
p.G145E
c.434G>A
1 paper
NM_015027.4
p.Q188fs
c.562_563fs
1 paper
NM_015027.4
p.Q63Q
c.189G>A
1 paper
NM_015027.4
p.Q56H
c.168A>C
1 paper
NM_015027.4
p.Q56H
c.168A>T
1 paper
NM_015027.4
p.R203H
c.608G>A
1 paper
NM_015027.4
p.V24M
c.70G>A
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