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.A243V

c.728C>T

Surrounding Variants

1 paper

NM_006521.6

p.A249S

c.745G>T

1 paper

NM_006521.6

p.A249A

c.747G>T

1 paper

NM_006521.6

p.T237_G238insT

c.709_713ins3

1 paper

NM_006521.6

p.E232Q

c.694G>C

2 papers

NM_006521.6

p.S257A

c.769T>G

2 papers

NM_006521.6

p.E260_I261Splc

c.780+1G>A

1 paper

NM_006521.6

p.A223T

c.667G>A

1 paper

NM_006521.6

p.P220L

c.659C>T

1 paper

NM_006521.6

p.P219P

c.657G>A

1 paper

NM_006521.6

p.P219L

c.656C>T

1 paper

NM_006521.6

p.T217A

c.649A>G

2 papers

NM_006521.6

p.P209delFs

c.626delG