Varaico: Literature-Extracted Genetic Variants

Gene:CNOT4
Variant:p.N512D

CNOT4

63 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transc...

Pfam Domains

zf-RING_4aa 14–61UCSCRING/Ubox like zinc-binding domain
RRM_1aa 111–187UCSCRNA recognition motif

Gene Aliases

HGNC Name

CCR4-NOT transcription complex subunit 4

HGNC Previous Symbol

NOT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001190850.2
p.N512D
c.1534A>G
Surrounding Variants
2 papers
NM_001190850.2
p.P499S
c.1495C>T
1 paper
NM_001190850.2
p.N466H
c.1396A>C
1 paper
NM_001190850.2
p.K413insFs
c.1239dupA
1 paper
NM_001190850.2
p.K413R
c.1238A>G
1 paper
NM_001008225.3
p.K394E
c.1180A>G
NM_001190850.2
p.K397E
c.1189A>G
1 paper
NM_001190850.2
p.P370L
c.1109C>T
1 paper
NM_001190850.2
p.P370S
c.1108C>T
1 paper
NM_001190850.2
p.P358L
c.1073C>T
1 paper
NM_001190850.2
p.P355L
c.1064C>T
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