Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.A146fs

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
3 papers
NM_178161.3
p.A146fs
c.436_437fs
Surrounding Variants
1 paper
NM_178161.3
p.A146fs
c.436_437fs
1 paper
NM_178161.3
p.A146_R154del0
c.437_460del24
1 paper
NM_178161.3
p.A147T
c.439G>A
3 papers
NM_178161.3
p.A146_R154delFs
c.437_462del26
1 paper
NM_178161.3
p.G140D
c.419G>A
1 paper
NM_178161.3
p.R154R
c.462G>A
1 paper
NM_178161.3
p.P134fs
c.400_401fs
1 paper
NM_178161.3
p.S133insFs
c.399dupT
1 paper
NM_178161.3
p.A129V
c.386C>T
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.A167T
c.499G>A
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