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

1–12 of 317 variants

9 papers

NM_016284.5

p.R535C

c.1603C>T

6 papers

NM_016284.5

p.P1543delFs

c.4629delA

3 papers

NM_016284.5

p.R299Q

c.896G>A

2 papers

NM_016284.5

p.R26*

c.76C>T

2 papers

NM_016284.5

p.Q33*

c.97C>T

2 papers

NM_016284.5

p.G171delFs

c.513delA

2 papers

NM_016284.5

p.G172fs

c.514_515fs

2 papers

NM_016284.5

p.A224T

c.670G>A

2 papers

NM_016284.5

p.S302L

c.905C>T

2 papers

NM_016284.5

p.V344I

c.1030G>A

2 papers

NM_016284.5

p.R499H

c.1496G>A

2 papers

NM_016284.5

p.M547I

c.1641G>T