Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.K103R

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.K103R
c.308A>G
Surrounding Variants
1 paper
NM_001271944.2
p.K103Q
c.307A>C
1 paper
NM_001271944.2
p.Y100F
c.299A>T
1 paper
NM_001271944.2
p.T99insFs
c.296_297insC
1 paper
NM_001271944.2
p.T99A
c.295A>G
2 papers
NM_001271944.2
p.E98E
c.294G>A
1 paper
NM_001271944.2
p.E98A
c.293A>C
1 paper
NM_001271944.2
p.S97A
c.289T>G
1 paper
NM_001271944.2
p.A111V
c.332C>T
1 paper
NM_001271944.2
p.Q112L
c.335A>T
1 paper
NM_001271944.2
p.G113C
c.337G>T
3 papers
NM_001271944.2
p.S114A
c.340T>G
2 papers
NM_001271944.2
p.K91R
c.272A>G
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