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.S126R

c.378C>A

Surrounding Variants

1 paper

NM_000435.3

p.S126R

c.378C>G

1 paper

NM_000435.3

p.P127A

c.379C>G

1 paper

NM_000435.3

p.P127L

c.380C>T

1 paper

NM_000435.3

p.S126C

c.376A>T

1 paper

NM_000435.3

p.S126G

c.376A>G

1 paper

NM_000435.3

p.S126R

c.376A>C

1 paper

NM_000435.3

p.P127fs

c.379_380fs

1 paper

NM_000435.3

p.P127P

c.381T>C

1 paper

NM_000435.3

p.S125R

c.375C>G

1 paper

NM_000435.3

p.S125R

c.375C>A

6 papers

NM_000435.3

p.C128G

c.382T>G

5 papers

NM_000435.3

p.C128F

c.383G>T