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.Q290fs

c.868_869fs

Surrounding Variants

3 papers

NM_017617.5

p.Q290*

c.868C>T

1 paper

NM_017617.5

p.G289_Q290insFs

c.867_868insC

1 paper

NM_017617.5

p.G289G

c.867T>A

4 papers

NM_017617.5

p.Y291*

c.873C>G

3 papers

NM_017617.5

p.Y291*

c.873C>A

1 paper

NM_017617.5

p.G289A

c.866G>C

2 papers

NM_017617.5

p.G289D

c.866G>A

1 paper

NM_017617.5

p.G289Splc

c.866-1G>T

4 papers

NM_017617.5

p.C292Y

c.875G>A

2 papers

NM_017617.5

p.G289Splc

c.866-1G>A

1 paper

NM_017617.5

p.C292C

c.876T>C

1 paper

NM_017617.5

p.C292*

c.876T>A