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.G451R

c.1351G>C

Surrounding Variants

1 paper

NM_000435.3

p.G451S

c.1351G>A

1 paper

NM_000435.3

p.I450R

c.1349T>G

1 paper

NM_000435.3

p.I450K

c.1349T>A

1 paper

NM_000435.3

p.I450V

c.1348A>G

3 papers

NM_000435.3

p.R449H

c.1346G>A

27 papers

NM_000435.3

p.R449C

c.1345C>T

1 paper

NM_000435.3

p.R449G

c.1345C>G

1 paper

NM_000435.3

p.D448E

c.1344C>G

1 paper

NM_000435.3

p.D448E

c.1344C>A

1 paper

NM_000435.3

p.D448Y

c.1342G>T

1 paper

NM_000435.3

p.D448H

c.1342G>C

64 papers

NM_000435.3

p.C455R

c.1363T>C