Varaico: Literature-Extracted Genetic Variants

NOTCH3

1,962 papers

RefSeq Summary

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) est...

Pfam Domains

EGFaa 43–75UCSCEGF-like domain

EGFaa 123–154UCSCEGF-like domain

EGF_CAaa 158–201UCSCCalcium-binding EGF domain

EGFaa 201–232UCSCEGF-like domain

hEGFaa 245–266UCSCHuman growth factor-like EGF

EGF_CAaa 274–314UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 3

HGNC Previous Symbol

CADASIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000435.3

p.C318S

c.953G>C

Surrounding Variants

8 papers

NM_000435.3

p.C318F

c.953G>T

1 paper

NM_000435.3

p.C318Y

c.953G>A

1 paper

NM_000435.3

p.C318insFs

c.953_954ins5

1 paper

NM_000435.3

p.C318R

c.952T>C

2 papers

NM_000435.3

p.A319V

c.956C>T

1 paper

NM_000435.3

p.D316E

c.948T>G

1 paper

NM_000435.3

p.D316E

c.948T>A

1 paper

NM_000435.3

p.D316N

c.946G>A

1 paper

NM_000435.3

p.I315delFs

c.945delG

9 papers

NM_000435.3

p.A321T

c.961G>A

4 papers

NM_000435.3

p.I315I

c.945C>T

1 paper

NM_000435.3

p.I315fs

c.943_944fs