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.L2196P

c.6587T>C

Surrounding Variants

2 papers

NM_000435.3

p.Q2194*

c.6580C>T

2 papers

NM_000435.3

p.P2201S

c.6601C>T

1 paper

NM_000435.3

p.P2201fs

c.6601_6602fs

1 paper

NM_000435.3

p.P2191L

c.6572C>T

1 paper

NM_000435.3

p.P2201P

c.6603C>T

1 paper

NM_000435.3

p.P2201fs

c.6601_6602fs

2 papers

NM_000435.3

p.V2202I

c.6604G>A

1 paper

NM_000435.3

p.P2201delFs

c.6603delG

1 paper

NM_000435.3

p.P2201delFs

c.6602_6603delGG

2 papers

NM_000435.3

p.V2202fs

c.6604_6605fs

3 papers

NM_000435.3

p.A2190V

c.6569C>T

1 paper

NM_000435.3

p.V2202fs

c.6604_6605fs