Varaico: Literature-Extracted Genetic Variants

Gene:TFAM

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
1–12 of 115 variants
33 papers
NM_003201.3
p.S12T
c.35G>C
11 papers
NM_003201.3
p.P178L
c.533C>T
7 papers
NM_003201.3
p.C49S
c.145T>A
7 papers
NM_003201.3
p.C49S
c.146G>C
7 papers
NM_003201.3
p.K147_E148Splc
c.441+113A>G
7 papers
NM_003201.3
p.R232C
c.694C>T
6 papers
NM_003201.3
p.K147delFs
c.441delA
4 papers
NM_003201.3
p.E148fs
c.442_443fs
3 papers
NM_003201.3
p.M1T
c.2T>C
3 papers
NM_003201.3
p.S61S
c.183T>C
3 papers
NM_003201.3
p.E63E
c.189A>G
3 papers
NM_003201.3
p.F68F
c.204T>C
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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."