Varaico: Literature-Extracted Genetic Variants

Gene:TCERG1
Variant:p.Q222Q

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.Q222Q
c.666A>G
Surrounding Variants
1 paper
NM_001382548.1
p.Q224Q
c.672A>G
1 paper
NM_001382548.1
p.Q224_Q226ins1
c.672_677dup6
1 paper
NM_001382548.1
p.Q224_Q226del0
c.672_677del6
1 paper
NM_001382548.1
p.A225D
c.674C>A
1 paper
NM_001382548.1
p.Q226Q
c.678G>A
1 paper
NM_001382548.1
p.Q218H
c.654G>C
1 paper
NM_001382548.1
p.Q218H
c.654G>T
1 paper
NM_001382548.1
p.A211A
c.633C>T
1 paper
NM_001382548.1
p.A211S
c.631G>T
1 paper
NM_001382548.1
p.A235_Q236insFs
c.705_706ins4
2 papers
NM_001382548.1
p.A209_Q210ins2
c.627_628ins6
1 paper
NM_001382548.1
p.A235_Q236ins2
c.705_706ins6
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