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

1 paper

NM_016284.5

p.G307fs

c.919_920fs

Surrounding Variants

1 paper

NM_016284.5

p.G307delFs

c.920delC

1 paper

NM_016284.5

p.P309L

c.926C>T

2 papers

NM_016284.5

p.S302L

c.905C>T

3 papers

NM_016284.5

p.R299Q

c.896G>A

1 paper

NM_016284.5

p.N275Y

c.823A>T

1 paper

NM_016284.5

p.R274L

c.821G>T

1 paper

NM_016284.5

p.R274C

c.820C>T

1 paper

NM_016284.5

p.P316L

c.947C>T

1 paper

NM_016284.5

p.A331P

c.991G>C

1 paper

NM_016284.5

p.T335fs

c.1003_1004fs

1 paper

NM_016284.5

p.T335delFs

c.1004_1005delTG

2 papers

NM_016284.5

p.V344I

c.1030G>A