Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.E682K

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.E682K
c.2044G>A
Surrounding Variants
1 paper
NM_007344.4
p.V684V
c.2052G>A
1 paper
NM_007344.4
p.R675Q
c.2024G>A
1 paper
NM_007344.4
p.R675G
c.2023C>G
2 papers
NM_007344.4
p.Q692*
c.2074C>T
1 paper
NM_007344.4
p.L694L
c.2080T>C
1 paper
NM_007344.4
p.G667S
c.1999G>A
2 papers
NM_007344.4
p.R666R
c.1998T>A
1 paper
NM_007344.4
p.R666H
c.1997G>A
2 papers
NM_007344.4
p.R666C
c.1996C>T
1 paper
NM_007344.4
p.R664K
c.1991G>A
1 paper
NM_007344.4
p.Q702del1
c.2104_2106delTTG
1 paper
NM_007344.4
p.Q702_E703del2
c.2104_2108del6
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