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

2 papers

NM_000435.3

p.A1236T

c.3706G>A

Surrounding Variants

15 papers

NM_000435.3

p.H1235L

c.3704A>T

1 paper

NM_000435.3

p.H1235R

c.3704A>G

1 paper

NM_000435.3

p.H1235Y

c.3703C>T

1 paper

NM_000435.3

p.F1238S

c.3713T>C

1 paper

NM_000435.3

p.L1233L

c.3699T>C

2 papers

NM_000435.3

p.C1232W

c.3696C>G

1 paper

NM_000435.3

p.G1240S

c.3718G>A

1 paper

NM_000435.3

p.S1239delFs

c.3717delT

2 papers

NM_000435.3

p.R1231H

c.3692G>A

92 papers

NM_000435.3

p.R1231C

c.3691C>T

1 paper

NM_000435.3

p.G1228A

c.3683G>C

1 paper

NM_000435.3

p.G1227D

c.3680G>A