Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.V72G

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.V72G
c.215T>G
Surrounding Variants
2 papers
NM_001271944.2
p.Y75F
c.224A>T
1 paper
NM_001271944.2
p.N78del1
c.232_233delATT
2 papers
NM_001271944.2
p.N78_P79del1
c.233_235delGAT
1 paper
NM_001271944.2
p.T80S
c.238A>T
1 paper
NM_001271944.2
p.N78_P79del2
c.232_236del6
1 paper
NM_001271944.2
p.Y82*
c.246C>G
1 paper
NM_001271944.2
p.H83fs
c.247_248fs
1 paper
NM_001271944.2
p.Q86Q
c.258G>A
1 paper
NM_001271944.2
p.S87L
c.260C>T
2 papers
NM_001271944.2
p.K91R
c.272A>G
1 paper
NM_001271944.2
p.S97A
c.289T>G
1 paper
NM_001271944.2
p.E98A
c.293A>C
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