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.C440F

c.1319G>T

Surrounding Variants

10 papers

NM_000435.3

p.C440S

c.1319G>C

13 papers

NM_000435.3

p.C440G

c.1318T>G

9 papers

NM_000435.3

p.C440R

c.1318T>C

10 papers

NM_000435.3

p.C440S

c.1318T>A

4 papers

NM_000435.3

p.C440W

c.1320C>G

2 papers

NM_000435.3

p.R441*

c.1321C>T

1 paper

NM_000435.3

p.R441G

c.1321C>G

1 paper

NM_000435.3

p.R441Q

c.1322G>A

2 papers

NM_000435.3

p.P439S

c.1315C>T

2 papers

NM_000435.3

p.G438R

c.1312G>C

2 papers

NM_000435.3

p.G438R

c.1312G>A

1 paper

NM_000435.3

p.N442K

c.1326C>G