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.A1727D

c.5180C>A

Surrounding Variants

1 paper

NM_016284.5

p.V1728M

c.5182G>A

1 paper

NM_016284.5

p.E1726Q

c.5176G>C

2 papers

NM_016284.5

p.Y1723H

c.5167T>C

1 paper

NM_016284.5

p.R1733C

c.5197C>T

1 paper

NM_016284.5

p.R1733H

c.5198G>A

1 paper

NM_016284.5

p.M1739K

c.5216T>A

1 paper

NM_016284.5

p.A1802T

c.5404G>A

1 paper

NM_016284.5

p.L1692L

c.5076A>T

1 paper

NM_016284.5

p.D1677N

c.5029G>A

1 paper

NM_016284.5

p.G1805*

c.5413G>T

1 paper

NM_016284.5

p.Q1808R

c.5423A>G

1 paper

NM_016284.5

p.P1828P

c.5484A>T