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.F324L

c.972C>G

Surrounding Variants

3 papers

NM_000435.3

p.H325Y

c.973C>T

1 paper

NM_000435.3

p.F324_H325delins

c.971_973delinsGTGCCACACCTGTGGCAG

1 paper

NM_000435.3

p.H325insFs

c.973dupC

4 papers

NM_000435.3

p.C323W

c.969C>G

4 papers

NM_000435.3

p.C323S

c.968G>C

1 paper

NM_000435.3

p.C323Y

c.968G>A

4 papers

NM_000435.3

p.C323S

c.967T>A

5 papers

NM_000435.3

p.V322M

c.964G>A

1 paper

NM_000435.3

p.T328S

c.982A>T

1 paper

NM_000435.3

p.T328P

c.982A>C

9 papers

NM_000435.3

p.A321T

c.961G>A

1 paper

NM_000435.3

p.T328S

c.983C>G