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.N1179D

c.3535A>G

Surrounding Variants

1 paper

NM_000435.3

p.N1179S

c.3536A>G

1 paper

NM_000435.3

p.C1176Y

c.3527G>A

4 papers

NM_000435.3

p.R1175Q

c.3524G>A

1 paper

NM_000435.3

p.C1182W

c.3546C>G

24 papers

NM_000435.3

p.V1183M

c.3547G>A

24 papers

NM_000435.3

p.R1175W

c.3523C>T

1 paper

NM_000435.3

p.V1183A

c.3548T>C

1 paper

NM_000435.3

p.P1174L

c.3521C>T

1 paper

NM_000435.3

p.P1174S

c.3520C>T

1 paper

NM_000435.3

p.G1173E

c.3518G>A

2 papers

NM_000435.3

p.D1184E

c.3552C>G

2 papers

NM_000435.3

p.D1184E

c.3552C>A