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.T1510S

c.4528A>T

Surrounding Variants

1 paper

NM_016284.5

p.T1510S

c.4529C>G

1 paper

NM_016284.5

p.K1514K

c.4542A>G

1 paper

NM_016284.5

p.R1539_Y1540insFs

c.4617_4618insT

2 papers

NM_016284.5

p.P1543insFs

c.4629dupT

1 paper

NM_016284.5

p.V1544insFs

c.4630_4631insTT

6 papers

NM_016284.5

p.P1543delFs

c.4629delA

1 paper

NM_016284.5

p.V1544insFs

c.4631dupT

1 paper

NM_016284.5

p.Y1548H

c.4642T>C

1 paper

NM_016284.5

p.V1571I

c.4711G>A

1 paper

NM_016284.5

p.R1577H

c.4730G>A

1 paper

NM_206999.3

p.F1543delFs

c.4629delA

1 paper

NM_016284.5

p.R1478R

c.4434T>A