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.C559W

c.1677C>G

Surrounding Variants

2 papers

NM_000435.3

p.C559C

c.1677C>T

1 paper

NM_000435.3

p.V560M

c.1678G>A

1 paper

NM_000435.3

p.C559Y

c.1676G>A

2 papers

NM_000435.3

p.R558H

c.1673G>A

61 papers

NM_000435.3

p.R558C

c.1672C>T

1 paper

NM_000435.3

p.R558_C559insC

c.1672_1676ins3

1 paper

NM_000435.3

p.G557C

c.1669G>T

3 papers

NM_000435.3

p.I563F

c.1687A>T

1 paper

NM_000435.3

p.H556R

c.1667A>G

1 paper

NM_000435.3

p.H556Y

c.1666C>T

11 papers

NM_000435.3

p.A564T

c.1690G>A

1 paper

NM_000435.3

p.A564A

c.1692C>T