Varaico: Literature-Extracted Genetic Variants

TCERG1

87 papers

RefSeq Summary

This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II v...

Pfam Domains

WWaa 134–162UCSCWW domain

WWaa 432–460UCSCWW domain

WW_TCERG1aa 520–574UCSCTCERG1 WW domain

FFaa 678–726UCSCFF domain

FFaa 744–793UCSCFF domain

FFaa 811–860UCSCFF domain

Gene Aliases

HGNC Name

transcription elongation regulator 1

HGNC Previous Symbol

TAF2S

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001382548.1

p.P109P

c.327T>C

Surrounding Variants

1 paper

NM_001382548.1

p.G112fs

c.334_335fs

1 paper

NM_001382548.1

p.P116P

c.348A>G

1 paper

NM_001382548.1

p.R96K

c.287G>A

1 paper

NM_001382548.1

p.P132P

c.396T>C

1 paper

NM_001382548.1

p.R153W

c.457C>T

1 paper

NM_001382548.1

p.T160del1

c.478_480delACC

1 paper

NM_001382548.1

p.M176V

c.526A>G

1 paper

NM_001382548.1

p.A181S

c.541G>T

1 paper

NM_001382548.1

p.Q192*

c.574C>T

1 paper

NM_001382548.1

p.Q196L

c.587A>T

1 paper

NM_001382548.1

p.Q198*

c.592C>T

1 paper

NM_001382548.1

p.A201_A205del0

c.603_614del12