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.R1478R

c.4434T>A

Surrounding Variants

1 paper

NM_016284.5

p.R1478C

c.4432C>T

1 paper

NM_016284.5

p.A1474P

c.4420G>C

1 paper

NM_016284.5

p.T1467A

c.4399A>G

1 paper

NM_016284.5

p.A1453D

c.4358C>A

1 paper

NM_016284.5

p.L1448*

c.4343T>A

1 paper

NM_016284.5

p.R1446C

c.4336C>T

1 paper

NM_016284.5

p.S1432L

c.4295C>T

1 paper

NM_206999.3

p.F1543delFs

c.4629delA

2 papers

NM_016284.5

p.L1389F

c.4167G>T

2 papers

NM_016284.5

p.L1389F

c.4167G>C

1 paper

NM_016284.5

p.T1510S

c.4528A>T

1 paper

NM_016284.5

p.T1510S

c.4529C>G