Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.Q48E

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.Q48E
c.142C>G
Surrounding Variants
1 paper
NM_007344.4
p.I49M
c.147A>G
1 paper
NM_007344.4
p.N44_E45delFs
c.131_134del4
1 paper
NM_007344.4
p.R51T
c.152G>C
1 paper
NM_007344.4
p.K53I
c.158A>T
1 paper
NM_007344.4
p.K53R
c.158A>G
2 papers
NM_007344.4
p.L42L
c.124C>T
1 paper
NM_007344.4
p.K56N
c.168A>T
1 paper
NM_007344.4
p.R38*
c.112A>T
1 paper
NM_007344.4
p.I36I
c.108T>C
1 paper
NM_007344.4
p.E35K
c.103G>A
2 papers
NM_007344.4
p.H61L
c.182A>T
1 paper
NM_007344.4
p.H61R
c.182A>G
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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."