Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.E408K

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.E408K
c.1222G>A
Surrounding Variants
1 paper
NM_001271944.2
p.G404C
c.1210G>T
1 paper
NM_001271944.2
p.Y413N
c.1237T>A
1 paper
NM_001271944.2
p.Y413F
c.1238A>T
1 paper
NM_001271944.2
p.A418delFs
c.1252delC
1 paper
NM_001271944.2
p.P426_S427insFs
c.1278_1279ins4
1 paper
NM_001271944.2
p.S389A
c.1165T>G
1 paper
NM_001271944.2
p.S429delFs
c.1285delA
2 papers
NM_001271944.2
p.K430R
c.1289A>G
1 paper
NM_001271944.2
p.K431R
c.1292A>G
1 paper
NM_001271944.2
p.D432insFs
c.1295_1296ins5
1 paper
NM_001271944.2
p.P444L
c.1331C>T
1 paper
NM_001271944.2
p.S447S
c.1341T>G
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