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.H243Q

c.729C>G

Surrounding Variants

1 paper

NM_000435.3

p.R244*

c.730C>T

2 papers

NM_000435.3

p.H243P

c.728A>C

1 paper

NM_000435.3

p.R244Q

c.731G>A

1 paper

NM_000435.3

p.G242delFs

c.726delT

8 papers

NM_000435.3

p.C245R

c.733T>C

7 papers

NM_000435.3

p.C245S

c.733T>A

1 paper

NM_000435.3

p.G242*

c.724G>T

7 papers

NM_000435.3

p.C245S

c.734G>C

1 paper

NM_000435.3

p.G242R

c.724G>C

6 papers

NM_000435.3

p.C245Y

c.734G>A

1 paper

NM_000435.3

p.G242R

c.724G>A

2 papers

NM_000435.3

p.L246L

c.738C>T