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.K503R

c.1508A>G

Surrounding Variants

1 paper

NM_001382548.1

p.E504delFs

c.1510delG

1 paper

NM_001382548.1

p.K500K

c.1500G>A

1 paper

NM_001382548.1

p.I499_E501del0

c.1495_1503del9

1 paper

NM_001382548.1

p.P486S

c.1456C>T

1 paper

NM_001382548.1

p.K478_P480del3

c.1432_1439del9

2 papers

NM_001382548.1

p.P506L

c.1517C>T

1 paper

NM_001382548.1

p.K516R

c.1547A>G

1 paper

NM_001382548.1

p.A525delFs

c.1573delG

1 paper

NM_001382548.1

p.A525fs

c.1573_1574fs

1 paper

NM_001382548.1

p.A527D

c.1580C>A

1 paper

NM_001382548.1

p.E465K

c.1393G>A

1 paper

NM_001382548.1

p.E458fs

c.1372_1373fs