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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNOT6

Variant:p.D60A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:180549997 A>C

NM_001370472.1

p.D60A

c.179A>C

LRR_8

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr5:180549952 C>A

NM_001370472.1

p.A45E

c.134C>A

exact variant not in gnomAD6 overlapping SVs

1 paper

chr5:180550077 C>T

NM_001370472.1

p.R87C

c.259C>T

LRR_8

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr5:180553424 C>T

NM_001370472.1

p.P113L

c.338C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr5:180553436 G>C

NM_001370472.1

p.G117A

c.350G>C

exact variant not in gnomAD5 overlapping SVs

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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."