Varaico: Literature-Extracted Genetic Variants

Gene:TCERG1
Variant:p.E610G

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.E610G
c.1829A>G
Surrounding Variants
1 paper
NM_001382548.1
p.K608R
c.1823A>G
1 paper
NM_001382548.1
p.A625fs
c.1873_1874fs
1 paper
NM_001382548.1
p.A625insFs
c.1875dupA
2 papers
NM_001382548.1
p.K627_R628ins6
c.1879_1883ins18
1 paper
NM_001382548.1
p.K627_R628ins12
c.1879_1883ins36
1 paper
NM_001382548.1
p.K585N
c.1755G>C
1 paper
NM_001382548.1
p.K585N
c.1755G>T
1 paper
NM_001382548.1
p.D569H
c.1705G>C
1 paper
NM_001382548.1
p.G564D
c.1691G>A
1 paper
NM_001382548.1
p.F546S
c.1637T>C
1 paper
NM_001382548.1
p.R543Q
c.1628G>A
1 paper
NM_001382548.1
p.E542K
c.1624G>A
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