Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.N293K

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.N293K
c.879T>A
Surrounding Variants
1 paper
NM_178161.3
p.N293K
c.879T>G
1 paper
NM_178161.3
p.N293T
c.878A>C
1 paper
NM_178161.3
p.I294_I295del1
c.882_884delTAT
1 paper
NM_178161.3
p.I295del1
c.883_884delATC
4 papers
NM_178161.3
p.R296*
c.886C>T
1 paper
NM_178161.3
p.E291K
c.871G>A
1 paper
NM_178161.3
p.A277T
c.829G>A
1 paper
NM_178161.3
p.S311N
c.932G>A
1 paper
NM_178161.3
p.S313fs
c.937_938fs
1 paper
NM_178161.3
p.N317_I318insFs
c.951_954dup4
1 paper
NM_178161.3
p.I318K
c.953T>A
1 paper
NM_178161.3
p.E319_N320del1
c.956_958delAAA
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