Varaico: Literature-Extracted Genetic Variants

Gene:CNOT6
Variant:p.G129Splc

CNOT6

43 papers

RefSeq Summary

This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT co...

Pfam Domains

LRR_8aa 51–109UCSCLeucine rich repeat
Exo_endo_phosaa 192–531UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

CCR4-NOT transcription complex subunit 6

HGNC Alias Symbols

KIAA1194; Ccr4a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370472.1
p.G129Splc
c.386-2A>G
Surrounding Variants
1 paper
NM_001370472.1
p.R163K
c.488G>A
1 paper
NM_001370472.1
p.D181N
c.541G>A
1 paper
NM_001370472.1
p.S190F
c.569C>T
1 paper
NM_001370472.1
p.N195S
c.584A>G
2 papers
NM_001370472.1
p.R204Q
c.611G>A
1 paper
NM_001370472.1
p.A214V
c.641C>T
2 papers
NM_001370472.1
p.E240A
c.719A>C
1 paper
NM_001370472.1
p.E253K
c.757G>A
1 paper
NM_001370472.1
p.F263F
c.789C>T
1 paper
NM_001370472.1
p.H298Y
c.892C>T
1 paper
NM_001370472.1
p.N325T
c.974A>C
1 paper
NM_001370472.1
p.N359K
c.1077C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."