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.P209fs

c.625_626fs

Surrounding Variants

1 paper

NM_006521.6

p.P209fs

c.625_626fs

2 papers

NM_006521.6

p.P209delFs

c.626delG

3 papers

NM_006521.6

p.Q201P

c.602A>C

1 paper

NM_006521.6

p.T217A

c.649A>G

1 paper

NM_006521.6

p.P219L

c.656C>T

1 paper

NM_006521.6

p.P219P

c.657G>A

1 paper

NM_006521.6

p.P220L

c.659C>T

1 paper

NM_006521.6

p.Q197L

c.590A>T

1 paper

NM_006521.6

p.R196L

c.587G>T

1 paper

NM_006521.6

p.A223T

c.667G>A

1 paper

NM_006521.6

p.R195C

c.583C>T

1 paper

NM_006521.6

p.Q193P

c.578A>C