Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.R63H

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.R63H
c.188G>A
Surrounding Variants
1 paper
NM_178161.3
p.D64E
c.192C>G
1 paper
NM_178161.3
p.A66T
c.196G>A
1 paper
NM_178161.3
p.L70L
c.210G>A
1 paper
NM_178161.3
p.S54N
c.161G>A
1 paper
NM_178161.3
p.A73T
c.217G>A
1 paper
NM_178161.3
p.A76V
c.227C>T
3 papers
NM_178161.3
p.A77T
c.229G>A
1 paper
NM_178161.3
p.E41G
c.122A>G
1 paper
NM_178161.3
p.S86S
c.258G>C
1 paper
NM_178161.3
p.G88D
c.263G>A
1 paper
NM_178161.3
p.E37D
c.111G>C
1 paper
NM_178161.3
p.E37D
c.111G>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."