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

64 papers

NM_000435.3

p.C455R

c.1363T>C

Surrounding Variants

1 paper

NM_000435.3

p.C455S

c.1363T>A

2 papers

NM_000435.3

p.C455F

c.1364G>T

1 paper

NM_000435.3

p.C455S

c.1364G>C

8 papers

NM_000435.3

p.C455Y

c.1364G>A

1 paper

NM_000435.3

p.C455W

c.1365T>G

1 paper

NM_000435.3

p.C457G

c.1369T>G

2 papers

NM_000435.3

p.C457R

c.1369T>C

6 papers

NM_000435.3

p.C457S

c.1369T>A

7 papers

NM_000435.3

p.C457S

c.1370G>C

1 paper

NM_000435.3

p.M458K

c.1373T>A

1 paper

NM_000435.3

p.G451R

c.1351G>C

2 papers

NM_000435.3

p.A459T

c.1375G>A