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.G2182D

c.6545G>A

Surrounding Variants

1 paper

NM_000435.3

p.P2183S

c.6547C>T

9 papers

NM_000435.3

p.P2178S

c.6532C>T

1 paper

NM_000435.3

p.P2178A

c.6532C>G

1 paper

NM_000435.3

p.P2177P

c.6531A>C

1 paper

NM_000435.3

p.P2188Q

c.6563C>A

3 papers

NM_000435.3

p.A2190V

c.6569C>T

1 paper

NM_000435.3

p.P2191L

c.6572C>T

1 paper

NM_000435.3

p.D2171D

c.6513T>C

1 paper

NM_000435.3

p.D2171V

c.6512A>T

2 papers

NM_000435.3

p.D2171H

c.6511G>C

1 paper

NM_000435.3

p.D2171N

c.6511G>A

2 papers

NM_000435.3

p.Q2194*

c.6580C>T