Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.H212Y

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.H212Y
c.634C>T
Surrounding Variants
1 paper
NM_003201.3
p.E214A
c.641A>C
1 paper
NM_003201.3
p.E208_M215del0
c.624_644del21
1 paper
NM_003201.3
p.K216Q
c.646A>C
1 paper
NM_003201.3
p.D207A
c.620A>C
1 paper
NM_003201.3
p.K205_S217del13
c.613_650del39
1 paper
NM_003201.3
p.H203_D207delFs
c.607_619del13
1 paper
NM_003201.3
p.D229A
c.686A>C
7 papers
NM_003201.3
p.R232C
c.694C>T
1 paper
NM_003201.3
p.R239*
c.715C>T
1 paper
NM_003201.3
p.E244G
c.731A>G
3 papers
NM_003201.3
p.C246S
c.736T>A
3 papers
NM_003201.3
p.C246S
c.737G>C
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