Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.E68insFs

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.E68insFs
c.203_204insC
Surrounding Variants
1 paper
NM_001271944.2
p.L70M
c.208T>A
1 paper
NM_001271944.2
p.K71_V72Splc
c.213+1G>A
1 paper
NM_001271944.2
p.F59_Q60delFs
c.177_178delGG
1 paper
NM_001271944.2
p.P56A
c.166C>G
2 papers
NM_001271944.2
p.N54_T55del2
c.160_164del6
1 paper
NM_001271944.2
p.N54_T55del1
c.162_164delGTA
1 paper
NM_001271944.2
p.A52T
c.154G>A
1 paper
NM_001271944.2
p.T50A
c.148A>G
1 paper
NM_001271944.2
p.P49L
c.146C>T
1 paper
NM_001271944.2
p.G47G
c.141G>A
1 paper
NM_001271944.2
p.G46R
c.136G>C
1 paper
NM_001271944.2
p.G46R
c.136G>A
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