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.G171R

c.511G>C

Surrounding Variants

2 papers

NM_016284.5

p.G171delFs

c.513delA

2 papers

NM_016284.5

p.G172fs

c.514_515fs

1 paper

NM_016284.5

p.G172V

c.515G>T

1 paper

NM_016284.5

p.D175N

c.523G>A

1 paper

NM_016284.5

p.D164Y

c.490G>T

1 paper

NM_016284.5

p.I178V

c.532A>G

1 paper

NM_016284.5

p.R158H

c.473G>A

1 paper

NM_016284.5

p.L184delFs

c.550delG

1 paper

NM_016284.5

p.S186F

c.557C>T

1 paper

NM_016284.5

p.L189fs

c.565_566fs

1 paper

NM_016284.5

p.F148Y

c.443T>A

1 paper

NM_016284.5

p.A145Splc

c.434-2A>G