Varaico: Literature-Extracted Genetic Variants

Gene:TFEB

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
1–12 of 162 variants
39 papers
NM_001271944.2
p.S211A
c.631T>G
9 papers
NM_001271944.2
p.Q18L
c.53A>T
6 papers
NM_001271944.2
p.K116R
c.347A>G
5 papers
NM_001271944.2
p.E318K
c.952G>A
4 papers
NM_001271944.2
p.S122A
c.364T>G
3 papers
NM_001271944.2
p.S114A
c.340T>G
3 papers
NM_001271944.2
p.V130M
c.388G>A
2 papers
NM_001271944.2
p.Q18_E19delFs
c.54_55delCC
2 papers
NM_001271944.2
p.N54_T55del2
c.160_164del6
2 papers
NM_001271944.2
p.Y75F
c.224A>T
2 papers
NM_001271944.2
p.N78_P79del1
c.233_235delGAT
2 papers
NM_001271944.2
p.K91R
c.272A>G
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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."