Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.G12D

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
11 papers
NM_178161.3
p.G12D
c.35G>A
Surrounding Variants
1 paper
NM_178161.3
p.G12V
c.35G>T
1 paper
NM_178161.3
p.L13V
c.37C>G
1 paper
NM_178161.3
p.E7V
c.20A>T
1 paper
NM_178161.3
p.S19delFs
c.55delT
1 paper
NM_178161.3
p.S19*
c.56C>A
1 paper
NM_178161.3
p.M1I
c.3G>A
1 paper
NM_178161.3
p.E23K
c.67G>A
1 paper
NM_178161.3
p.M1I
c.3G>C
1 paper
NM_178161.3
p.M1I
c.3G>T
1 paper
NM_178161.3
p.M1V
c.1A>G
1 paper
NM_178161.3
p.D25E
c.75C>A
1 paper
NM_178161.3
p.D25E
c.75C>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."