Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.A175_S190del16

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.A175_S190del16
c.523_569del48
Surrounding Variants
1 paper
NM_007344.4
p.E191K
c.571G>A
1 paper
NM_007344.4
p.H193R
c.578A>G
1 paper
NM_007344.4
p.P188insFs
c.562_563insC
1 paper
NM_007344.4
p.E179E
c.537G>A
2 papers
NM_007344.4
p.W178S
c.533G>C
2 papers
NM_007344.4
p.I207F
c.619A>T
1 paper
NM_007344.4
p.I207M
c.621T>G
1 paper
NM_007344.4
p.A175S
c.523G>T
1 paper
NM_007344.4
p.G202_I207delFs
c.605_621del17
1 paper
NM_007344.4
p.Q172R
c.515A>G
1 paper
NM_007344.4
p.P211_A212delFs
c.633_636del4
1 paper
NM_007344.4
p.K166fs
c.496_497fs
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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."