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

54 papers

NM_000435.3

p.R587C

c.1759C>T

Surrounding Variants

2 papers

NM_000435.3

p.R587H

c.1760G>A

1 paper

NM_000435.3

p.S588G

c.1762A>G

1 paper

NM_000435.3

p.S588N

c.1763G>A

1 paper

NM_000435.3

p.E585A

c.1754A>C

1 paper

NM_000435.3

p.Q589L

c.1766A>T

1 paper

NM_000435.3

p.Q589P

c.1766A>C

5 papers

NM_000435.3

p.C591R

c.1771T>C

1 paper

NM_000435.3

p.Q582L

c.1745A>T

20 papers

NM_000435.3

p.R592C

c.1774C>T

10 papers

NM_000435.3

p.R592S

c.1774C>A

2 papers

NM_000435.3

p.H593R

c.1778A>G

1 paper

NM_000435.3

p.E580*

c.1738G>T