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.P203H

c.608C>A

Surrounding Variants

1 paper

NM_000435.3

p.P203L

c.608C>T

1 paper

NM_000435.3

p.N196_A202del0

c.586_606del21

2 papers

NM_000435.3

p.P200_S204delins

c.598_610delinsAGAACCC

17 papers

NM_000435.3

p.A202A

c.606A>G

7 papers

NM_000435.3

p.A202V

c.605C>T

2 papers

NM_000435.3

p.A202_P203insACC

c.604_608ins9

2 papers

NM_000435.3

p.C201F

c.602G>T

7 papers

NM_000435.3

p.C201S

c.602G>C

12 papers

NM_000435.3

p.C201Y

c.602G>A

2 papers

NM_000435.3

p.P205R

c.614C>G

1 paper

NM_000435.3

p.P205Q

c.614C>A

9 papers

NM_000435.3

p.C201R

c.601T>C