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.C504G

c.1510T>G

Surrounding Variants

8 papers

NM_000435.3

p.C504R

c.1510T>C

1 paper

NM_000435.3

p.C504Y

c.1511G>A

1 paper

NM_000435.3

p.T503M

c.1508C>T

1 paper

NM_000435.3

p.T503S

c.1507A>T

2 papers

NM_000435.3

p.Q505H

c.1515G>T

2 papers

NM_000435.3

p.Q505H

c.1515G>C

10 papers

NM_000435.3

p.S502F

c.1505C>T

1 paper

NM_000435.3

p.G501D

c.1502G>A

1 paper

NM_000435.3

p.G501C

c.1501G>T

1 paper

NM_000435.3

p.S500R

c.1500C>A

1 paper

NM_000435.3

p.D507A

c.1520A>C

2 papers

NM_000435.3

p.D507E

c.1521C>G