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

105 papers

NM_000435.3

p.R153C

c.457C>T

Surrounding Variants

1 paper

NM_000435.3

p.R153S

c.457C>A

2 papers

NM_000435.3

p.R153H

c.458G>A

2 papers

NM_000435.3

p.G152D

c.455G>A

1 paper

NM_000435.3

p.R153R

c.459C>T

2 papers

NM_000435.3

p.G152C

c.454G>T

1 paper

NM_000435.3

p.S154C

c.460A>T

2 papers

NM_000435.3

p.S154N

c.461G>A

1 paper

NM_000435.3

p.S154S

c.462C>T

5 papers

NM_000435.3

p.C155S

c.463T>A

2 papers

NM_000435.3

p.Q151*

c.451C>T

12 papers

NM_000435.3

p.Q151E

c.451C>G

4 papers

NM_000435.3

p.Q151K

c.451C>A