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

176 papers

NM_000435.3

p.R90C

c.268C>T

Surrounding Variants

1 paper

NM_000435.3

p.R90P

c.269G>C

2 papers

NM_000435.3

p.R90H

c.269G>A

1 paper

NM_000435.3

p.R90delFs

c.268delG

5 papers

NM_000435.3

p.G89C

c.265G>T

1 paper

NM_000435.3

p.G91A

c.272G>C

2 papers

NM_000435.3

p.G91D

c.272G>A

1 paper

NM_000435.3

p.V92L

c.274G>C

1 paper

NM_000435.3

p.G91del1

c.271_272delACC

1 paper

NM_000435.3

p.A88_V92del0

c.263_274del12

7 papers

NM_000435.3

p.C87F

c.260G>T

6 papers

NM_000435.3

p.C87Y

c.260G>A

1 paper

NM_000435.3

p.V92V

c.276C>A