Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.K336_K337del2

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
2 papers
NM_007344.4
p.K336_K337del2
c.1006_1010del6
Surrounding Variants
2 papers
NM_007344.4
p.S339F
c.1016C>T
3 papers
NM_007344.4
p.K336_K337del1
c.1007_1009delTCT
1 paper
NM_007344.4
p.K337fs
c.1009_1010fs
1 paper
NM_007344.4
p.K329T
c.986A>C
1 paper
NM_007344.4
p.P326S
c.976C>T
2 papers
NM_007344.4
p.P358L
c.1073C>T
3 papers
NM_007344.4
p.G360V
c.1079G>T
1 paper
NM_007344.4
p.H317insFs
c.950_951insC
1 paper
NM_007344.4
p.L316insFs
c.947_948insC
1 paper
NM_007344.4
p.G364C
c.1090G>T
1 paper
NM_007344.4
p.M307I
c.921G>T
1 paper
NM_007344.4
p.M307I
c.921G>C
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