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.N480S

c.1439A>G

Surrounding Variants

1 paper

NM_000435.3

p.N480D

c.1438A>G

6 papers

NM_000435.3

p.G481C

c.1441G>T

1 paper

NM_000435.3

p.G481S

c.1441G>A

1 paper

NM_000435.3

p.C478*

c.1434T>A

1 paper

NM_000435.3

p.C478F

c.1433G>T

3 papers

NM_000435.3

p.C478Y

c.1433G>A

1 paper

NM_000435.3

p.V483_C484insFs

c.1449_1450insT

1 paper

NM_000435.3

p.P477T

c.1429C>A

4 papers

NM_000435.3

p.C484G

c.1450T>G

1 paper

NM_000435.3

p.C484R

c.1450T>C

5 papers

NM_000435.3

p.C484F

c.1451G>T

1 paper

NM_000435.3

p.S476T

c.1427G>C