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

7 papers

NM_000435.3

p.T577A

c.1729A>G

Surrounding Variants

1 paper

NM_000435.3

p.G576D

c.1727G>A

1 paper

NM_000435.3

p.G576S

c.1726G>A

60 papers

NM_000435.3

p.R578C

c.1732C>T

1 paper

NM_000435.3

p.T575T

c.1725G>C

7 papers

NM_000435.3

p.T575T

c.1725G>A

3 papers

NM_000435.3

p.R578H

c.1733G>A

2 papers

NM_000435.3

p.T575M

c.1724C>T

9 papers

NM_000435.3

p.C579R

c.1735T>C

4 papers

NM_000435.3

p.C579Y

c.1736G>A

11 papers

NM_000435.3

p.Y574C

c.1721A>G

1 paper

NM_000435.3

p.E580*

c.1738G>T

1 paper

NM_000435.3

p.E580Q

c.1738G>C