Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A

PTF1A

176 papers

RefSeq Summary

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in deter...

Pfam Domains

HLHaa 164–216UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

pancreas associated transcription factor 1a

HGNC Alias Symbols

PTF1-p48; bHLHa29; p48

Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
11 papers
NM_178161.3
p.G12D
c.35G>A
11 papers
NM_178161.3
p.P191T
c.571C>A
4 papers
NM_178161.3
p.S263P
c.787T>C
4 papers
NM_178161.3
p.R296*
c.886C>T
3 papers
NM_178161.3
p.A77T
c.229G>A
3 papers
NM_178161.3
p.A146_R154delFs
c.437_462del26
3 papers
NM_178161.3
p.A146fs
c.436_437fs
3 papers
NM_178161.3
p.R262Splc
c.784+4A>G
2 papers
NM_178161.3
p.D29N
c.85G>A
2 papers
NM_178161.3
p.G95D
c.284G>A
2 papers
NM_178161.3
p.R175H
c.524G>A
2 papers
NM_178161.3
p.G235_P236insFs
c.705_706insG
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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."