Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.K111R

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.K111R
c.332A>G
Surrounding Variants
1 paper
NM_003201.3
p.K111Q
c.331A>C
2 papers
NM_003201.3
p.E112A
c.335A>C
2 papers
NM_003201.3
p.V109G
c.326T>G
1 paper
NM_003201.3
p.Q108P
c.323A>C
1 paper
NM_003201.3
p.I114T
c.341T>C
1 paper
NM_003201.3
p.E106A
c.317A>C
1 paper
NM_003201.3
p.E106K
c.316G>A
2 papers
NM_003201.3
p.A105T
c.313G>A
1 paper
NM_003201.3
p.K118Q
c.352A>C
1 paper
NM_003201.3
p.K118insFs
c.353_354insC
1 paper
NM_003201.3
p.K118R
c.353A>G
1 paper
NM_003201.3
p.E119fs
c.355_356fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."