Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.E172insFs

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.E172insFs
c.514_515insCA
Surrounding Variants
1 paper
NM_003201.3
p.S177A
c.529T>G
11 papers
NM_003201.3
p.P178L
c.533C>T
2 papers
NM_003201.3
p.Q179_E180Splc
c.537+1G>A
1 paper
NM_003201.3
p.S160*
c.479C>A
1 paper
NM_003201.3
p.S160*
c.479C>G
1 paper
NM_003201.3
p.R159R
c.477T>C
3 papers
NM_003201.3
p.K156I
c.467A>T
1 paper
NM_003201.3
p.K154Q
c.460A>C
1 paper
NM_003201.3
p.T150P
c.448A>C
2 papers
NM_003201.3
p.L149*
c.446T>A
2 papers
NM_003201.3
p.L149*
c.446T>G
2 papers
NM_003201.3
p.E148fs
c.442_443fs
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