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.Q231delFs

c.691delG

Surrounding Variants

3 papers

NM_000435.3

p.Q231R

c.692A>G

1 paper

NM_000435.3

p.G230fs

c.688_689fs

1 paper

NM_000435.3

p.N232K

c.696T>G

1 paper

NM_000435.3

p.N232K

c.696T>A

1 paper

NM_000435.3

p.G230S

c.688G>A

2 papers

NM_000435.3

p.E229delFs

c.686_687delCT

1 paper

NM_000435.3

p.C233G

c.697T>G

7 papers

NM_000435.3

p.C233R

c.697T>C

8 papers

NM_000435.3

p.C233S

c.697T>A

8 papers

NM_000435.3

p.C233S

c.698G>C

10 papers

NM_000435.3

p.C233Y

c.698G>A

5 papers

NM_000435.3

p.C233W

c.699T>G