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.H514Q

c.1542T>A

Surrounding Variants

1 paper

NM_016284.5

p.H514Q

c.1542T>G

1 paper

NM_016284.5

p.N516Fs

c.1548delinsTCFs

1 paper

NM_016284.5

p.L511F

c.1531C>T

1 paper

NM_016284.5

p.I520V

c.1558A>G

2 papers

NM_016284.5

p.R499H

c.1496G>A

1 paper

NM_016284.5

p.R499C

c.1495C>T

1 paper

NM_016284.5

p.S494S

c.1482T>G

1 paper

NM_016284.5

p.A487T

c.1459G>A

1 paper

NM_016284.5

p.Q471*

c.1411C>T

1 paper

NM_016284.5

p.Q465P

c.1394A>C

1 paper

NM_016284.5

p.K449N

c.1347G>T

1 paper

NM_016284.5

p.K449N

c.1347G>C