Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.K116R

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
6 papers
NM_001271944.2
p.K116R
c.347A>G
Surrounding Variants
1 paper
NM_001271944.2
p.K116Q
c.346A>C
1 paper
NM_001271944.2
p.P118S
c.352C>T
3 papers
NM_001271944.2
p.S114A
c.340T>G
2 papers
NM_001271944.2
p.P119S
c.355C>T
1 paper
NM_001271944.2
p.P119L
c.356C>T
1 paper
NM_001271944.2
p.P119R
c.356C>G
1 paper
NM_001271944.2
p.G113C
c.337G>T
1 paper
NM_001271944.2
p.Q112L
c.335A>T
1 paper
NM_001271944.2
p.A121T
c.361G>A
1 paper
NM_001271944.2
p.A111V
c.332C>T
4 papers
NM_001271944.2
p.S122A
c.364T>G
1 paper
NM_001271944.2
p.S122F
c.365C>T
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