Varaico: Literature-Extracted Genetic Variants

CNOT1

16q21 (UCSC)OMIM PanelApp GTEx

221 papers

Pfam Domains

CNOT1_1staa 26–227UCSCCCR4-NOT transcription complex subunit 1, N-terminal domain

CNOT1_HEATaa 500–656UCSCCCR4-NOT transcription complex subunit 1 HEAT repeat

CNOT1_TTP_bindaa 813–1004UCSCCCR4-NOT transcription complex subunit 1 TTP binding domain

CNOT1_CAF1_bindaa 1087–1313UCSCCCR4-NOT transcription complex subunit 1 CAF1-binding domain

DUF3819aa 1387–1534UCSCCCR4-Not complex, Not1 subunit, domain of unknown function DUF3819

Gene Aliases

HGNC Name

CCR4-NOT transcription complex subunit 1

HGNC Previous Symbol

NOT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016284.5

p.R26*

c.76C>T

Surrounding Variants

1 paper

NM_016284.5

p.A27D

c.80C>A

1 paper

NM_016284.5

p.K22N

c.66G>T

1 paper

NM_016284.5

p.K22N

c.66G>C

1 paper

NM_016284.5

p.I32K

c.95T>A

2 papers

NM_016284.5

p.Q33*

c.97C>T

1 paper

NM_016284.5

p.H34Q

c.102T>G

1 paper

NM_016284.5

p.H34Q

c.102T>A

1 paper

NM_016284.5

p.H34_I35Splc

c.102+2T>C

1 paper

NM_016284.5

p.A9A

c.27C>G

1 paper

NM_016284.5

p.L6_S7insFs

c.18_19insG

1 paper

NM_016284.5

p.L3L

c.9T>A