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

2 papers

NM_006521.6

p.T187A

c.559A>G

Surrounding Variants

1 paper

NM_006521.6

p.T187P

c.559A>C

11 papers

NM_006521.6

p.T187M

c.560C>T

4 papers

NM_006521.6

p.T187R

c.560C>G

1 paper

NM_006521.6

p.T187K

c.560C>A

3 papers

NM_006521.6

p.P186L

c.557C>T

2 papers

NM_006521.6

p.Y189C

c.566A>G

1 paper

NM_006521.6

p.H190R

c.569A>G

2 papers

NM_006521.6

p.H190Q

c.570C>G

2 papers

NM_006521.6

p.H190Q

c.570C>A

1 paper

NM_006521.6

p.L183V

c.547C>G

1 paper

NM_006521.6

p.L183M

c.547C>A

2 papers

NM_006521.6

p.L191P

c.572T>C