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.E161delFs

c.481delC

Surrounding Variants

1 paper

NM_000435.3

p.E161G

c.482A>G

1 paper

NM_000435.3

p.E161_C162insAG

c.481_485ins6

1 paper

NM_000435.3

p.E161Q

c.481G>C

5 papers

NM_000435.3

p.C162R

c.484T>C

9 papers

NM_000435.3

p.C162S

c.484T>A

9 papers

NM_000435.3

p.C162S

c.485G>C

3 papers

NM_000435.3

p.C162Y

c.485G>A

1 paper

NM_000435.3

p.D160G

c.479A>G

11 papers

NM_000435.3

p.C162W

c.486C>G

5 papers

NM_000435.3

p.R163W

c.487C>T

3 papers

NM_000435.3

p.R163Q

c.488G>A

1 paper

NM_000435.3

p.V159M

c.475G>A