Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.S61S

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
3 papers
NM_003201.3
p.S61S
c.183T>C
Surrounding Variants
1 paper
NM_003201.3
p.K62Q
c.184A>C
1 paper
NM_003201.3
p.S61F
c.182C>T
1 paper
NM_003201.3
p.K62R
c.185A>G
2 papers
NM_003201.3
p.S61A
c.181T>G
1 paper
NM_003201.3
p.F60I
c.178T>A
3 papers
NM_003201.3
p.E63E
c.189A>G
1 paper
NM_003201.3
p.R59G
c.175C>G
1 paper
NM_003201.3
p.L65Q
c.194T>A
2 papers
NM_003201.3
p.P66A
c.196C>G
1 paper
NM_003201.3
p.S56C
c.167C>G
3 papers
NM_003201.3
p.F68F
c.204T>C
1 paper
NM_003201.3
p.K69_P73delFs
c.205_217del13
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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."