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.D431Fs

c.1291delinsAGGFs

Surrounding Variants

4 papers

NM_000435.3

p.N433T

c.1298A>C

34 papers

NM_000435.3

p.C428S

c.1283G>C

10 papers

NM_000435.3

p.C428Y

c.1283G>A

10 papers

NM_000435.3

p.C428R

c.1282T>C

34 papers

NM_000435.3

p.C428S

c.1282T>A

11 papers

NM_000435.3

p.C435R

c.1303T>C

18 papers

NM_000435.3

p.R427C

c.1279C>T

1 paper

NM_000435.3

p.R427G

c.1279C>G

3 papers

NM_000435.3

p.C435F

c.1304G>T

2 papers

NM_000435.3

p.C435Y

c.1304G>A

8 papers

NM_000435.3

p.P426L

c.1277C>T

2 papers

NM_000435.3

p.E434_L436ins1

c.1300_1308dup9