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

6 papers

NM_000435.3

p.R735*

c.2203C>T

Surrounding Variants

4 papers

NM_000435.3

p.A734A

c.2202C>T

1 paper

NM_000435.3

p.D736E

c.2208C>G

1 paper

NM_000435.3

p.D736E

c.2208C>A

1 paper

NM_000435.3

p.A737V

c.2210C>T

1 paper

NM_000435.3

p.C738Y

c.2213G>A

2 papers

NM_000435.3

p.E739K

c.2215G>A

1 paper

NM_000435.3

p.Q731*

c.2191C>T

2 papers

NM_000435.3

p.S740C

c.2219C>G

1 paper

NM_000435.3

p.C729S

c.2186G>C

4 papers

NM_000435.3

p.C729G

c.2185T>G

1 paper

NM_000435.3

p.C729S

c.2185T>A

1 paper

NM_000435.3

p.R728H

c.2183G>A