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.G482insFs

c.1445_1446insGG

Surrounding Variants

2 papers

NM_006521.6

p.G482insFs

c.1445dupG

1 paper

NM_006521.6

p.G481_G482ins0

c.1443_1445dupGGG

3 papers

NM_006521.6

p.G482fs

c.1444_1445fs

6 papers

NM_006521.6

p.G482delFs

c.1445delC

1 paper

NM_006521.6

p.P483fs

c.1447_1448fs

5 papers

NM_006521.6

p.G482fs

c.1444_1445fs

1 paper

NM_006521.6

p.P483fs

c.1447_1448fs

1 paper

NM_006521.6

p.G481V

c.1442G>T

4 papers

NM_006521.6

p.A484T

c.1450G>A

2 papers

NM_006521.6

p.A484V

c.1451C>T

1 paper

NM_006521.6

p.G480V

c.1439G>T

2 papers

NM_006521.6

p.G480A

c.1439G>C