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.A224T

c.670G>A

Surrounding Variants

1 paper

NM_016284.5

p.L223R

c.668T>G

1 paper

NM_016284.5

p.V221M

c.661G>A

1 paper

NM_016284.5

p.D213Splc

c.638-4T>C

1 paper

NM_016284.5

p.M236V

c.706A>G

1 paper

NM_016284.5

p.R238S

c.714G>T

1 paper

NM_016284.5

p.R238S

c.714G>C

1 paper

NM_016284.5

p.S243T

c.727T>A

1 paper

NM_016284.5

p.G245G

c.735G>C

1 paper

NM_016284.5

p.V246delFs

c.736delC

1 paper

NM_016284.5

p.M251L

c.751A>T

1 paper

NM_016284.5

p.M251L

c.751A>C

1 paper

NM_016284.5

p.L255M

c.763T>A