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

2 papers

NM_000435.3

p.C435Y

c.1304G>A

Surrounding Variants

3 papers

NM_000435.3

p.C435F

c.1304G>T

11 papers

NM_000435.3

p.C435R

c.1303T>C

2 papers

NM_000435.3

p.E434_L436ins1

c.1300_1308dup9

1 paper

NM_000435.3

p.S437P

c.1309T>C

4 papers

NM_000435.3

p.N433T

c.1298A>C

2 papers

NM_000435.3

p.G438R

c.1312G>C

2 papers

NM_000435.3

p.G438R

c.1312G>A

2 papers

NM_000435.3

p.P439S

c.1315C>T

1 paper

NM_000435.3

p.D431Fs

c.1291delinsAGGFs

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