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

1 paper

NM_000435.3

p.P148P

c.444T>A

Surrounding Variants

8 papers

NM_000435.3

p.G149C

c.445G>T

10 papers

NM_000435.3

p.G149V

c.446G>T

2 papers

NM_000435.3

p.G149D

c.446G>A

2 papers

NM_000435.3

p.P148S

c.442C>T

1 paper

NM_000435.3

p.P147fs

c.439_440fs

9 papers

NM_000435.3

p.P147R

c.440C>G

9 papers

NM_000435.3

p.Y150C

c.449A>G

3 papers

NM_000435.3

p.C146W

c.438C>G

1 paper

NM_000435.3

p.C146S

c.437G>C

16 papers

NM_000435.3

p.C146Y

c.437G>A

2 papers

NM_000435.3

p.Q151*

c.451C>T

12 papers

NM_000435.3

p.Q151E

c.451C>G