Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.P329S

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.P329S
c.985C>T
Surrounding Variants
2 papers
NM_001271944.2
p.T331A
c.991A>G
1 paper
NM_001271944.2
p.P333insFs
c.998_999ins11
1 paper
NM_001271944.2
p.S334Y
c.1001C>A
1 paper
NM_001271944.2
p.A323V
c.968C>T
1 paper
NM_001271944.2
p.G335S
c.1003G>A
1 paper
NM_001271944.2
p.G335V
c.1004G>T
1 paper
NM_001271944.2
p.G335A
c.1004G>C
1 paper
NM_001271944.2
p.G335D
c.1004G>A
1 paper
NM_001271944.2
p.M336L
c.1006A>T
1 paper
NM_001271944.2
p.A339T
c.1015G>A
5 papers
NM_001271944.2
p.E318K
c.952G>A
1 paper
NM_001271944.2
p.L341V
c.1021C>G
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