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.E2206K

c.6616G>A

Surrounding Variants

2 papers

NM_000435.3

p.R2207W

c.6619C>T

2 papers

NM_000435.3

p.R2207Q

c.6620G>A

1 paper

NM_000435.3

p.R2207R

c.6621G>A

2 papers

NM_000435.3

p.P2204L

c.6611C>T

1 paper

NM_000435.3

p.P2208T

c.6622C>A

1 paper

NM_000435.3

p.S2203Y

c.6608C>A

10 papers

NM_000435.3

p.P2209L

c.6626C>T

1 paper

NM_000435.3

p.V2202fs

c.6604_6605fs

2 papers

NM_000435.3

p.P2209insFs

c.6626dupC

1 paper

NM_000435.3

p.P2209P

c.6627G>A

1 paper

NM_000435.3

p.P2210fs

c.6628_6629fs

2 papers

NM_000435.3

p.V2202I

c.6604G>A