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

2 papers

NM_000435.3

p.P205R

c.614C>G

Surrounding Variants

1 paper

NM_000435.3

p.P205Q

c.614C>A

11 papers

NM_000435.3

p.C206R

c.616T>C

1 paper

NM_000435.3

p.C206S

c.616T>A

1 paper

NM_000435.3

p.C206F

c.617G>T

1 paper

NM_000435.3

p.C206S

c.617G>C

8 papers

NM_000435.3

p.C206Y

c.617G>A

2 papers

NM_000435.3

p.P200_S204delins

c.598_610delinsAGAACCC

1 paper

NM_000435.3

p.C206W

c.618C>G

46 papers

NM_000435.3

p.R207C

c.619C>T

8 papers

NM_000435.3

p.R207H

c.620G>A

1 paper

NM_000435.3

p.P203L

c.608C>T

1 paper

NM_000435.3

p.P203H

c.608C>A