Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.T248A

TTF1

310 papers

RefSeq Summary

This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA p...

Pfam Domains

Myb_DNA-bind_6aa 105–162UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

transcription termination factor 1

HGNC Previous Name

transcription termination factor, RNA polymerase I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007344.4
p.T248A
c.742A>G
Surrounding Variants
1 paper
NM_007344.4
p.G247_T248insFs
c.741_742insA
1 paper
NM_007344.4
p.T248S
c.743C>G
1 paper
NM_007344.4
p.A246V
c.737C>T
1 paper
NM_007344.4
p.E245D
c.735G>T
1 paper
NM_007344.4
p.E245D
c.735G>C
1 paper
NM_007344.4
p.E245V
c.734A>T
1 paper
NM_007344.4
p.S253P
c.757T>C
1 paper
NM_007344.4
p.A242T
c.724G>A
1 paper
NM_007344.4
p.Q254insFs
c.760_761insA
1 paper
NM_007344.4
p.P255S
c.763C>T
1 paper
NM_007344.4
p.D260insFs
c.778dupG
1 paper
NM_007344.4
p.L234delFs
c.702delC
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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."