Varaico: Literature-Extracted Genetic Variants

Gene:PDXDC1
Variant:p.E421K

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.E421K
c.1261G>A
Surrounding Variants
1 paper
NM_015027.4
p.L428V
c.1282C>G
1 paper
NM_015027.4
p.T464I
c.1391C>T
1 paper
NM_015027.4
p.R471Q
c.1412G>A
1 paper
NM_015027.4
p.K485N
c.1455A>C
1 paper
NM_015027.4
p.K485N
c.1455A>T
1 paper
NM_015027.4
p.N516T
c.1547A>C
1 paper
NM_015027.4
p.L367L
c.1099T>C
1 paper
NM_015027.4
p.G694D
c.2081G>A
1 paper
NM_015027.4
p.T697T
c.2091C>T
1 paper
NM_015027.4
p.S721N
c.2162G>A
1 paper
NM_015027.4
p.S748ins6
c.2243_2244ins18
1 paper
NM_015027.4
p.D762N
c.2284G>A
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