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

5 papers

NM_000435.3

p.C117S

c.350G>C

Surrounding Variants

15 papers

NM_000435.3

p.C117F

c.350G>T

9 papers

NM_000435.3

p.C117Y

c.350G>A

11 papers

NM_000435.3

p.C117R

c.349T>C

5 papers

NM_000435.3

p.C117S

c.349T>A

1 paper

NM_000435.3

p.C117C

c.351C>T

2 papers

NM_000435.3

p.C117W

c.351C>G

15 papers

NM_000435.3

p.S118C

c.353C>G

1 paper

NM_000435.3

p.D116G

c.347A>G

1 paper

NM_000435.3

p.L119V

c.355C>G

4 papers

NM_000435.3

p.L119_P120ins1

c.357_358insTGC

1 paper

NM_000435.3

p.P120L

c.359C>T

1 paper

NM_000435.3

p.G114Splc

c.341-1G>C