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.T748_C758del11

c.2242_2273del33

Surrounding Variants

1 paper

NM_000435.3

p.C758Y

c.2273G>A

1 paper

NM_000435.3

p.P761L

c.2282C>T

1 paper

NM_000435.3

p.P761P

c.2283G>C

1 paper

NM_000435.3

p.P762L

c.2285C>T

2 papers

NM_000435.3

p.P762H

c.2285C>A

1 paper

NM_000435.3

p.P762P

c.2286T>A

1 paper

NM_000435.3

p.G755D

c.2264G>A

2 papers

NM_000435.3

p.V764A

c.2291T>C

2 papers

NM_000435.3

p.G755R

c.2263G>C

2 papers

NM_000435.3

p.G755S

c.2263G>A

1 paper

NM_000435.3

p.G747_G753del0

c.2240_2257del18

1 paper

NM_000435.3

p.G753V

c.2258G>T