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.R559Q

c.1676G>A

Surrounding Variants

1 paper

NM_016284.5

p.G549A

c.1646G>C

2 papers

NM_016284.5

p.M547I

c.1641G>T

2 papers

NM_016284.5

p.M547I

c.1641G>C

2 papers

NM_016284.5

p.M547I

c.1641G>A

9 papers

NM_016284.5

p.R535C

c.1603C>T

1 paper

NM_016284.5

p.I534delFs

c.1601delA

1 paper

NM_016284.5

p.I534fs

c.1600_1601fs

1 paper

NM_016284.5

p.S571L

c.1712C>T

1 paper

NM_016284.5

p.L588fs

c.1762_1763fs

1 paper

NM_016284.5

p.R592L

c.1775G>T

1 paper

NM_016284.5

p.K596T

c.1787A>C

1 paper

NM_016284.5

p.L601L

c.1803C>T