Varaico: Literature-Extracted Genetic Variants

TFE3

197 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes do...

Pfam Domains

MITF_TFEB_C_3_Naa 113–266UCSCMITF/TFEB/TFEC/TFE3 N-terminus

HLHaa 347–400UCSCHelix-loop-helix DNA-binding domain

DUF3371aa 432–574UCSCDomain of unknown function (DUF3371)

Gene Aliases

HGNC Name

transcription factor binding to IGHM enhancer 3

HGNC Alias Symbols

TFEA; bHLHe33

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006521.6

p.V157I

c.469G>A

Surrounding Variants

1 paper

NM_006521.6

p.G160fs

c.478_479fs

1 paper

NM_006521.6

p.G160G

c.480G>A

1 paper

NM_006521.6

p.S165S

c.495C>T

1 paper

NM_006521.6

p.R166S

c.496C>A

1 paper

NM_006521.6

p.A146A

c.438A>G

1 paper

NM_006521.6

p.P173L

c.518C>T

1 paper

NM_006521.6

p.A139V

c.416C>T

2 papers

NM_006521.6

p.A139T

c.415G>A

1 paper

NM_006521.6

p.A138V

c.413C>T

1 paper

NM_006521.6

p.A137V

c.410C>T

1 paper

NM_006521.6

p.A137D

c.410C>A

1 paper

NM_006521.6

p.R134Q

c.401G>A