Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.C49S

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
7 papers
NM_003201.3
p.C49S
c.145T>A
Surrounding Variants
1 paper
NM_003201.3
p.C49G
c.145T>G
7 papers
NM_003201.3
p.C49S
c.146G>C
1 paper
NM_003201.3
p.P50del1
c.148_149delCCA
1 paper
NM_003201.3
p.P50A
c.148C>G
1 paper
NM_003201.3
p.A47_P50del0
c.141_149del9
1 paper
NM_003201.3
p.K51K
c.153G>A
1 paper
NM_003201.3
p.P53A
c.157C>G
1 paper
NM_003201.3
p.S44delFs
c.131_132delCT
1 paper
NM_003201.3
p.S56C
c.167C>G
1 paper
NM_003201.3
p.R59G
c.175C>G
1 paper
NM_003201.3
p.L38I
c.112T>A
1 paper
NM_003201.3
p.F60I
c.178T>A
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