Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.C212S

TFEB

341 papers

Pfam Domains

MITF_TFEB_C_3_Naa 4–162UCSCMITF/TFEB/TFEC/TFE3 N-terminus
HLHaa 236–289UCSCHelix-loop-helix DNA-binding domain
DUF3371aa 321–473UCSCDomain of unknown function (DUF3371)

Gene Aliases

HGNC Name

transcription factor EB

HGNC Alias Symbols

TCFEB; bHLHe35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001271944.2
p.C212S
c.634T>A
Surrounding Variants
2 papers
NM_001271944.2
p.C212S
c.635G>C
39 papers
NM_001271944.2
p.S211A
c.631T>G
1 paper
NM_001271944.2
p.S211P
c.631T>C
1 paper
NM_001271944.2
p.P213A
c.637C>G
1 paper
NM_001271944.2
p.S210G
c.628A>G
1 paper
NM_001271944.2
p.T208A
c.622A>G
1 paper
NM_001271944.2
p.T217A
c.649A>G
1 paper
NM_001271944.2
p.L204L
c.610C>T
1 paper
NM_001271944.2
p.S203A
c.607T>G
1 paper
NM_001271944.2
p.T201A
c.601A>G
1 paper
NM_001271944.2
p.D197G
c.590A>G
1 paper
NM_001271944.2
p.Y194F
c.581A>T
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