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

3 papers

NM_006521.6

p.Q118P

c.353A>C

Surrounding Variants

1 paper

NM_006521.6

p.Q118delins

c.353_354delinsCC

4 papers

NM_006521.6

p.R117Q

c.350G>A

1 paper

NM_006521.6

p.Q119L

c.356A>T

3 papers

NM_006521.6

p.Q119P

c.356A>C

1 paper

NM_006521.6

p.R113T

c.338G>C

1 paper

NM_006521.6

p.A123D

c.368C>A

2 papers

NM_006521.6

p.S112A

c.334T>G

1 paper

NM_006521.6

p.S111L

c.332C>T

1 paper

NM_006521.6

p.S111A

c.331T>G

1 paper

NM_006521.6

p.A125A

c.375G>A

1 paper

NM_006521.6

p.S110T

c.328T>A

1 paper

NM_006521.6

p.A125_E127del0

c.374_379del6