Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.E23A

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.E23A
c.68A>C
Surrounding Variants
1 paper
NM_001271944.2
p.E20A
c.59A>C
1 paper
NM_001271944.2
p.E19A
c.56A>C
2 papers
NM_001271944.2
p.Q18_E19delFs
c.54_55delCC
1 paper
NM_001271944.2
p.Q26_Q27delFs
c.78_79delGC
1 paper
NM_001271944.2
p.E19*
c.55G>T
9 papers
NM_001271944.2
p.Q18L
c.53A>T
1 paper
NM_001271944.2
p.M31I
c.93G>A
1 paper
NM_001271944.2
p.L7_E14del8
c.19_41del24
1 paper
NM_001271944.2
p.L7_E14delFs
c.20_41del22
1 paper
NM_001271944.2
p.Y33D
c.97T>G
1 paper
NM_001271944.2
p.R13R
c.39G>A
1 paper
NM_001271944.2
p.R13W
c.37C>T
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