Varaico: Literature-Extracted Genetic Variants

Gene:TTF2
Variant:p.Q192R

TTF2

1,233 papers

RefSeq Summary

This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activ...

Pfam Domains

Zn_ribbon_GRFaa 4–42UCSCGRF zinc finger
SNF2-rel_domaa 573–932UCSCSNF2-related domain
Helicase_Caa 991–1106UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

transcription termination factor 2

HGNC Alias Symbols

HuF2; ZGRF6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003594.4
p.Q192R
c.575A>G
Surrounding Variants
1 paper
NM_003594.4
p.E193insFs
c.579dupG
1 paper
NM_003594.4
p.K195E
c.583A>G
1 paper
NM_003594.4
p.K195R
c.584A>G
1 paper
NM_003594.4
p.K195N
c.585G>C
1 paper
NM_003594.4
p.Q196K
c.586C>A
1 paper
NM_003594.4
p.Q196*
c.586C>T
1 paper
NM_003594.4
p.Q188R
c.563A>G
1 paper
NM_003594.4
p.E198K
c.592G>A
1 paper
NM_003594.4
p.K186*
c.556A>T
1 paper
NM_003594.4
p.G199R
c.595G>A
1 paper
NM_003594.4
p.G199R
c.595G>C
1 paper
NM_003594.4
p.K185R
c.554A>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."