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

3 papers

NM_000435.3

p.N196S

c.587A>G

Surrounding Variants

1 paper

NM_000435.3

p.N196I

c.587A>T

1 paper

NM_000435.3

p.N196T

c.587A>C

2 papers

NM_000435.3

p.P197S

c.589C>T

1 paper

NM_000435.3

p.P197L

c.590C>T

7 papers

NM_000435.3

p.A198T

c.592G>A

8 papers

NM_000435.3

p.C194F

c.581G>T

11 papers

NM_000435.3

p.C194S

c.581G>C

6 papers

NM_000435.3

p.C194Y

c.581G>A

5 papers

NM_000435.3

p.A198V

c.593C>T

1 paper

NM_000435.3

p.A198insFs

c.593_594ins5

1 paper

NM_000435.3

p.A198E

c.593C>A

1 paper

NM_000435.3

p.C194G

c.580T>G