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

9 papers

NM_000435.3

p.C123F

c.368G>T

Surrounding Variants

2 papers

NM_000435.3

p.C123S

c.368G>C

11 papers

NM_000435.3

p.C123Y

c.368G>A

1 paper

NM_000435.3

p.C123S

c.367T>A

1 paper

NM_000435.3

p.L124F

c.370C>T

1 paper

NM_000435.3

p.L124V

c.370C>G

1 paper

NM_000435.3

p.L124P

c.371T>C

1 paper

NM_000435.3

p.S125C

c.373A>T

1 paper

NM_000435.3

p.S125R

c.373A>C

1 paper

NM_000435.3

p.D121A

c.362A>C

1 paper

NM_000435.3

p.G114_D121del0

c.341_361del21

1 paper

NM_000435.3

p.P120del1

c.358_359delTGG

1 paper

NM_000435.3

p.S125R

c.375C>G