Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.G719C

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
4 papers
NM_007344.4
p.G719C
c.2155G>T
Surrounding Variants
7 papers
NM_007344.4
p.G719S
c.2155G>A
13 papers
NM_007344.4
p.G719A
c.2156G>C
1 paper
NM_007344.4
p.G719D
c.2156G>A
1 paper
NM_007344.4
p.Q702_E703del2
c.2104_2108del6
3 papers
NM_007344.4
p.W734*
c.2201G>A
3 papers
NM_007344.4
p.W734*
c.2202G>A
1 paper
NM_007344.4
p.Q702del1
c.2104_2106delTTG
1 paper
NM_007344.4
p.K728_Q736delFs
c.2184_2206del23
1 paper
NM_007344.4
p.W741_T742insA
c.2221_2225ins3
1 paper
NM_007344.4
p.L694L
c.2080T>C
2 papers
NM_007344.4
p.Q692*
c.2074C>T
1 paper
NM_007344.4
p.V684V
c.2052G>A
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