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.N308Y

c.922A>T

Surrounding Variants

1 paper

NM_017617.5

p.N308D

c.922A>G

1 paper

NM_017617.5

p.N308insFs

c.923_924insG

1 paper

NM_017617.5

p.N308N

c.924C>T

1 paper

NM_017617.5

p.N308K

c.924C>A

1 paper

NM_017617.5

p.G309R

c.925G>C

2 papers

NM_017617.5

p.Q307*

c.919C>T

1 paper

NM_017617.5

p.G309A

c.926G>C

1 paper

NM_017617.5

p.C306W

c.918C>G

3 papers

NM_017617.5

p.C306F

c.917G>T

1 paper

NM_017617.5

p.C306S

c.917G>C

2 papers

NM_017617.5

p.C306Y

c.917G>A

1 paper

NM_017617.5

p.G309insFs

c.926dupG