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

33 papers

NM_000435.3

p.R728C

c.2182C>T

Surrounding Variants

1 paper

NM_000435.3

p.R728H

c.2183G>A

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.C729S

c.2186G>C

1 paper

NM_000435.3

p.G726G

c.2178C>T

1 paper

NM_000435.3

p.G726D

c.2177G>A

1 paper

NM_000435.3

p.S725S

c.2175T>C

1 paper

NM_000435.3

p.Q731*

c.2191C>T

1 paper

NM_000435.3

p.G723G

c.2169C>T

1 paper

NM_000435.3

p.G723D

c.2168G>A

1 paper

NM_000435.3

p.P722H

c.2165C>A

4 papers

NM_000435.3

p.A734A

c.2202C>T