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.F461L

c.1381T>C

Surrounding Variants

3 papers

NM_000435.3

p.G460C

c.1378G>T

1 paper

NM_000435.3

p.G460Splc

c.1379-1G>C

1 paper

NM_000435.3

p.G460Splc

c.1379-1G>A

1 paper

NM_000435.3

p.T462I

c.1385C>T

1 paper

NM_000435.3

p.G463*

c.1387G>T

1 paper

NM_000435.3

p.G460Splc

c.1379-5C>T

17 papers

NM_000435.3

p.Y465C

c.1394A>G

1 paper

NM_000435.3

p.Y465Y

c.1395T>C

3 papers

NM_000435.3

p.C466G

c.1396T>G

2 papers

NM_000435.3

p.C466R

c.1396T>C

2 papers

NM_000435.3

p.C466S

c.1396T>A

4 papers

NM_000435.3

p.C466Y

c.1397G>A