Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.K147delFs

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
6 papers
NM_003201.3
p.K147delFs
c.441delA
Surrounding Variants
2 papers
NM_003201.3
p.T144fs
c.430_431fs
1 paper
NM_003201.3
p.T144T
c.432A>C
1 paper
NM_003201.3
p.K145Q
c.433A>C
1 paper
NM_003201.3
p.K145R
c.434A>G
1 paper
NM_003201.3
p.K146Q
c.436A>C
1 paper
NM_003201.3
p.K146R
c.437A>G
1 paper
NM_003201.3
p.K147_E148Splc
c.441+2T>A
1 paper
NM_003201.3
p.M134delFs
c.400delA
1 paper
NM_003201.3
p.Q120delFs
c.359delA
1 paper
NM_003201.3
p.E119fs
c.355_356fs
1 paper
NM_003201.3
p.K118insFs
c.353_354insC
1 paper
NM_003201.3
p.K118R
c.353A>G
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