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.C302*

c.906T>A

Surrounding Variants

4 papers

NM_000435.3

p.C302Y

c.905G>A

1 paper

NM_000435.3

p.C302R

c.904T>C

1 paper

NM_000435.3

p.V301M

c.901G>A

1 paper

NM_000435.3

p.V303_N304insFs

c.907_910dup4

1 paper

NM_000435.3

p.C300F

c.899G>T

1 paper

NM_000435.3

p.S299R

c.897C>G

1 paper

NM_000435.3

p.S299R

c.897C>A

1 paper

NM_000435.3

p.W306*

c.917G>A

5 papers

NM_000435.3

p.S299C

c.895A>T

1 paper

NM_000435.3

p.S299R

c.895A>C

1 paper

NM_000435.3

p.W306*

c.918G>A

1 paper

NM_000435.3

p.G297_H298Fs

c.889_894delinsTGTTGCACTGTGAFs