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.R1220P

c.3659G>C

Surrounding Variants

2 papers

NM_000435.3

p.R1220W

c.3658C>T

11 papers

NM_000435.3

p.C1222G

c.3664T>G

2 papers

NM_000435.3

p.C1222R

c.3664T>C

1 paper

NM_000435.3

p.C1222S

c.3664T>A

1 paper

NM_000435.3

p.C1222S

c.3665G>C

1 paper

NM_000435.3

p.H1218delFs

c.3652delG

3 papers

NM_000435.3

p.A1217V

c.3650C>T

1 paper

NM_000435.3

p.A1217T

c.3649G>A

1 paper

NM_000435.3

p.A1216T

c.3646G>A

1 paper

NM_000435.3

p.D1225N

c.3673G>A

1 paper

NM_000435.3

p.H1215L

c.3644A>T

1 paper

NM_000435.3

p.D1225G

c.3674A>G