Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.A167T

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.A167T
c.499G>A
Surrounding Variants
1 paper
NM_178161.3
p.A167V
c.500C>T
1 paper
NM_178161.3
p.R171G
c.511C>G
2 papers
NM_178161.3
p.R175H
c.524G>A
1 paper
NM_178161.3
p.R175L
c.524G>T
1 paper
NM_178161.3
p.R154R
c.462G>A
1 paper
NM_178161.3
p.D181A
c.542A>C
1 paper
NM_178161.3
p.E184A
c.551A>C
1 paper
NM_178161.3
p.L186P
c.557T>C
1 paper
NM_178161.3
p.A147T
c.439G>A
1 paper
NM_178161.3
p.A146fs
c.436_437fs
3 papers
NM_178161.3
p.A146fs
c.436_437fs
1 paper
NM_178161.3
p.A146_R154del0
c.437_460del24
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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."