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.P109H

c.326C>A

Surrounding Variants

1 paper

NM_000435.3

p.P109T

c.325C>A

97 papers

NM_000435.3

p.R110C

c.328C>T

6 papers

NM_000435.3

p.C108W

c.324C>G

5 papers

NM_000435.3

p.C108F

c.323G>T

13 papers

NM_000435.3

p.C108S

c.323G>C

10 papers

NM_000435.3

p.C108Y

c.323G>A

2 papers

NM_000435.3

p.C108G

c.322T>G

12 papers

NM_000435.3

p.C108R

c.322T>C

13 papers

NM_000435.3

p.C108S

c.322T>A

3 papers

NM_000435.3

p.G111C

c.331G>T

10 papers

NM_000435.3

p.R107W

c.319C>T

1 paper

NM_000435.3

p.C106_G111del0

c.317_331del15