Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.S3_I5delFs

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
1 paper
NM_001271944.2
p.S3_I5delFs
c.7_14del8
Surrounding Variants
1 paper
NM_001271944.2
p.S3T
c.7T>A
1 paper
NM_001271944.2
p.A2_S3delins
c.6_7delinsCC
1 paper
NM_001271944.2
p.A2insFs
c.5_6insT
1 paper
NM_001271944.2
p.M1I
c.3G>A
1 paper
NM_001271944.2
p.M1R
c.2T>G
1 paper
NM_001271944.2
p.M1V
c.1A>G
1 paper
NM_001271944.2
p.R13W
c.37C>T
1 paper
NM_001271944.2
p.R13R
c.39G>A
1 paper
NM_001271944.2
p.L7_E14delFs
c.20_41del22
1 paper
NM_001271944.2
p.L7_E14del8
c.19_41del24
9 papers
NM_001271944.2
p.Q18L
c.53A>T
1 paper
NM_001271944.2
p.E19*
c.55G>T
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