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

1–12 of 159 variants

11 papers

NM_006521.6

p.T187M

c.560C>T

7 papers

NM_006521.6

p.S321A

c.961T>G

6 papers

NM_006521.6

p.G482delFs

c.1445delC

5 papers

NM_006521.6

p.G482fs

c.1444_1445fs

4 papers

NM_006521.6

p.R117Q

c.350G>A

4 papers

NM_006521.6

p.T187R

c.560C>G

4 papers

NM_006521.6

p.A484T

c.1450G>A

3 papers

NM_006521.6

p.Q118P

c.353A>C

3 papers

NM_006521.6

p.Q119P

c.356A>C

3 papers

NM_006521.6

p.P186L

c.557C>T

3 papers

NM_006521.6

p.Q201P

c.602A>C

3 papers

NM_006521.6

p.P314delFs

c.941delG