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.G216G

c.648C>T

Surrounding Variants

1 paper

NM_000435.3

p.G216delFs

c.647delC

1 paper

NM_000435.3

p.D217N

c.649G>A

2 papers

NM_000435.3

p.G216S

c.646G>A

1 paper

NM_000435.3

p.Y220H

c.658T>C

5 papers

NM_000435.3

p.Y220N

c.658T>A

31 papers

NM_000435.3

p.R213K

c.638G>A

1 paper

NM_000435.3

p.Y220fs

c.658_659fs

1 paper

NM_000435.3

p.R213W

c.637A>T

7 papers

NM_000435.3

p.Y220C

c.659A>G

1 paper

NM_000435.3

p.R213_Q214insT

c.637_641ins3

7 papers

NM_000435.3

p.Y220Y

c.660C>T

8 papers

NM_000435.3

p.C212W

c.636C>G