Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDXDC1

Variant:p.K7_I8Splc

PDXDC1

16p13.11 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr16:14975223 C>G

NM_015027.4

p.K7_I8Splc

c.21+3C>G

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=0, hom=0)6 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."