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.P742T

c.2224C>A

Surrounding Variants

1 paper

NM_000435.3

p.C743F

c.2228G>T

2 papers

NM_000435.3

p.C743Y

c.2228G>A

2 papers

NM_000435.3

p.S740C

c.2219C>G

1 paper

NM_000435.3

p.R744W

c.2230A>T

2 papers

NM_000435.3

p.E739K

c.2215G>A

1 paper

NM_000435.3

p.A745V

c.2234C>T

1 paper

NM_000435.3

p.C738Y

c.2213G>A

1 paper

NM_000435.3

p.A745A

c.2235C>T

3 papers

NM_000435.3

p.G746S

c.2236G>A

1 paper

NM_000435.3

p.A737V

c.2210C>T

1 paper

NM_000435.3

p.G747E

c.2240G>A

1 paper

NM_000435.3

p.G747delins

c.2239_2240delinsAA