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

1 paper

NM_006521.6

p.K347R

c.1040A>G

Surrounding Variants

1 paper

NM_006521.6

p.E337Q

c.1009G>C

1 paper

NM_006521.6

p.N363insFs

c.1089dupC

2 papers

NM_006521.6

p.R365S

c.1095G>T

2 papers

NM_006521.6

p.R365S

c.1095G>C

1 paper

NM_006521.6

p.P374A

c.1120C>G

1 paper

NM_006521.6

p.P374H

c.1121C>A

1 paper

NM_006521.6

p.K375N

c.1125G>T

1 paper

NM_006521.6

p.S377insFs

c.1130dupG

1 paper

NM_006521.6

p.S377insFs

c.1130_1131insGG

1 paper

NM_006521.6

p.E335Fs

c.1003delinsGAFs

1 paper

NM_006521.6

p.R331L

c.992G>T

1 paper

NM_006521.6

p.N328I

c.983A>T