Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.R262Splc

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.R262Splc
c.784+4A>G
Surrounding Variants
2 papers
NM_178161.3
p.R262Splc
c.784+1G>A
1 paper
NM_178161.3
p.R259fs
c.775_776fs
1 paper
NM_178161.3
p.R259delFs
c.775delC
2 papers
NM_178161.3
p.R241C
c.721C>T
2 papers
NM_178161.3
p.G235_P236insFs
c.705_706insG
1 paper
NM_178161.3
p.A230V
c.689C>T
1 paper
NM_178161.3
p.S216R
c.648C>A
1 paper
NM_178161.3
p.S216R
c.648C>G
1 paper
NM_178161.3
p.S216R
c.646A>C
1 paper
NM_178161.3
p.G210D
c.629G>A
1 paper
NM_178161.3
p.G210A
c.629G>C
1 paper
NM_178161.3
p.G210_L215del0
c.630_644del15
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