Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017617.5

p.D869N

c.2605G>A

Surrounding Variants

1 paper

NM_017617.5

p.V868I

c.2602G>A

1 paper

NM_017617.5

p.E867*

c.2599G>T

1 paper

NM_017617.5

p.E867_V868insC

c.2599_2603ins3

1 paper

NM_017617.5

p.C866S

c.2597G>C

1 paper

NM_017617.5

p.N871N

c.2613C>T

1 paper

NM_017617.5

p.C866S

c.2596T>A

3 papers

NM_017617.5

p.E872*

c.2614G>T

1 paper

NM_017617.5

p.E872_C873insC

c.2614_2618ins3

1 paper

NM_017617.5

p.E872Q

c.2614G>C

1 paper

NM_017617.5

p.N871del1

c.2611_2612delGTT

1 paper

NM_017617.5

p.T865T

c.2595C>A

2 papers

NM_017617.5

p.T865N

c.2594C>A