Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.K15K

PDX1

415 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded n...

Pfam Domains

Homeodomainaa 147–203UCSCHomeodomain

Gene Aliases

HGNC Name

pancreatic and duodenal homeobox 1

HGNC Previous Symbol

IPF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000209.4
p.K15K
c.45G>A
Surrounding Variants
1 paper
NM_000209.4
p.D16delFs
c.47delA
4 papers
NM_000209.4
p.D16_P17insFs
c.48_49insC
1 paper
NM_000209.4
p.Y14Y
c.42C>T
1 paper
NM_000209.4
p.K15delFs
c.43delA
1 paper
NM_000209.4
p.P17fs
c.49_50fs
1 paper
NM_000209.4
p.P17insFs
c.51dupA
1 paper
NM_000209.4
p.P17delFs
c.51delA
1 paper
NM_000209.4
p.C18S
c.52T>A
31 papers
NM_000209.4
p.C18R
c.52T>C
1 paper
NM_000209.4
p.C18G
c.52T>G
5 papers
NM_000209.4
p.C18*
c.54C>A
1 paper
NM_000209.4
p.C18W
c.54C>G
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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."