Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.E20G

TFAM

289 papers

RefSeq Summary

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorph...

Pfam Domains

HMG_boxaa 50–118UCSCHMG (high mobility group) box
HMG_box_2aa 153–219UCSCHMG-box domain

Gene Aliases

HGNC Name

transcription factor A, mitochondrial

HGNC Previous Symbols

TCF6; TCF6L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003201.3
p.E20G
c.59A>G
Surrounding Variants
1 paper
NM_003201.3
p.E20V
c.59A>T
1 paper
NM_003201.3
p.A19E
c.56C>A
1 paper
NM_003201.3
p.G15fs
c.43_44fs
33 papers
NM_003201.3
p.S12T
c.35G>C
2 papers
NM_003201.3
p.S31A
c.91T>G
2 papers
NM_003201.3
p.P32A
c.94C>G
1 paper
NM_003201.3
p.F33Y
c.98T>A
1 paper
NM_003201.3
p.S6G
c.16A>G
1 paper
NM_003201.3
p.M1I
c.3G>A
1 paper
NM_003201.3
p.M1I
c.3G>T
3 papers
NM_003201.3
p.M1T
c.2T>C
1 paper
NM_003201.3
p.L38I
c.112T>A
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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."