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

3 papers

NM_000435.3

p.R133S

c.397C>A

Surrounding Variants

207 papers

NM_000435.3

p.R133C

c.397C>T

3 papers

NM_000435.3

p.R133G

c.397C>G

1 paper

NM_000435.3

p.R133H

c.398G>A

1 paper

NM_000435.3

p.A132A

c.396C>G

3 papers

NM_000435.3

p.C134G

c.400T>G

5 papers

NM_000435.3

p.C134R

c.400T>C

1 paper

NM_000435.3

p.C134F

c.401G>T

12 papers

NM_000435.3

p.C134Y

c.401G>A

11 papers

NM_000435.3

p.C134W

c.402C>G

12 papers

NM_000435.3

p.G131C

c.391G>T

2 papers

NM_000435.3

p.G131R

c.391G>C

3 papers

NM_000435.3

p.G131S

c.391G>A