Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.Y33D

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.Y33D
c.97T>G
Surrounding Variants
1 paper
NM_001271944.2
p.M31I
c.93G>A
1 paper
NM_001271944.2
p.Q26_Q27delFs
c.78_79delGC
1 paper
NM_001271944.2
p.Q40_Q41del1
c.120_122delTGC
1 paper
NM_001271944.2
p.E23A
c.68A>C
1 paper
NM_001271944.2
p.Q44del1
c.130_131delCTG
1 paper
NM_001271944.2
p.E20A
c.59A>C
1 paper
NM_001271944.2
p.G46R
c.136G>C
1 paper
NM_001271944.2
p.G46R
c.136G>A
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.E19*
c.55G>T
1 paper
NM_001271944.2
p.G47G
c.141G>A
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