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

10 papers

NM_000435.3

p.A284T

c.850G>A

Surrounding Variants

1 paper

NM_000435.3

p.N283N

c.849C>T

1 paper

NM_000435.3

p.N283K

c.849C>G

3 papers

NM_000435.3

p.A284A

c.852C>A

1 paper

NM_000435.3

p.C285R

c.853T>C

2 papers

NM_000435.3

p.H286Y

c.856C>T

1 paper

NM_000435.3

p.Q281K

c.841C>A

1 paper

NM_000435.3

p.G288A

c.863G>C

1 paper

NM_000435.3

p.G288E

c.863G>A

1 paper

NM_000435.3

p.Q279Q

c.837G>A

1 paper

NM_000435.3

p.Q279R

c.836A>G

2 papers

NM_000435.3

p.G289D

c.866G>A

1 paper

NM_000435.3

p.G289insFs

c.866dupG