Varaico: Literature-Extracted Genetic Variants

Gene:CNOT2
Variant:p.N466H

CNOT2

58 papers

RefSeq Summary

This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and lo...

Pfam Domains

NOT2_3_5_Caa 396–521UCSCNOT2/NOT3/NOT5 C-terminal

Gene Aliases

HGNC Name

CCR4-NOT transcription complex subunit 2

HGNC Previous Symbol

NOT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014515.7
p.N466H
c.1396A>C
Surrounding Variants
1 paper
NM_014515.7
p.T480delFs
c.1440delC
1 paper
NM_014515.7
p.R481G
c.1441A>G
1 paper
NM_014515.7
p.Y494*
c.1482T>A
1 paper
NM_014515.7
p.Y494*
c.1482T>G
1 paper
NM_014515.7
p.D414Splc
c.1241-4C>T
1 paper
NM_014515.7
p.R409*
c.1225C>T
1 paper
NM_014515.7
p.G341Splc
c.1022-33G>C
3 papers
NM_014515.7
p.K316*
c.946A>T
4 papers
NM_014515.7
p.*541insFs
c.1621_1622insA
4 papers
NM_014515.7
p.*541Fs
c.1621delinsTAAFs
1 paper
NM_014515.7
p.*541insFs
c.1621_1622ins5
2 papers
NM_014515.7
p.*541fs
c.1621_1622fs
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