Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.G109D

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
Selected Variant
1 paper
NM_178161.3
p.G109D
c.326G>A
Surrounding Variants
2 papers
NM_178161.3
p.G95D
c.284G>A
1 paper
NM_178161.3
p.G128R
c.382G>A
1 paper
NM_178161.3
p.G128R
c.382G>C
1 paper
NM_178161.3
p.G90A
c.269G>C
1 paper
NM_178161.3
p.A129V
c.386C>T
1 paper
NM_178161.3
p.G88D
c.263G>A
1 paper
NM_178161.3
p.S86S
c.258G>C
1 paper
NM_178161.3
p.S133insFs
c.399dupT
1 paper
NM_178161.3
p.P134fs
c.400_401fs
1 paper
NM_178161.3
p.G140D
c.419G>A
3 papers
NM_178161.3
p.A77T
c.229G>A
1 paper
NM_178161.3
p.A76V
c.227C>T
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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."