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.A63T

c.187G>A

Surrounding Variants

1 paper

NM_000435.3

p.E62delFs

c.184_185delTC

1 paper

NM_000435.3

p.A63D

c.188C>A

1 paper

NM_000435.3

p.A63delFs

c.187delC

1 paper

NM_000435.3

p.A63fs

c.187_188fs

1 paper

NM_000435.3

p.R61_E62delFs

c.183_184delCC

2 papers

NM_000435.3

p.R61L

c.182G>T

1 paper

NM_000435.3

p.R61P

c.182G>C

1 paper

NM_000435.3

p.R61Q

c.182G>A

3 papers

NM_000435.3

p.C65G

c.193T>G

8 papers

NM_000435.3

p.C65S

c.193T>A

30 papers

NM_000435.3

p.R61W

c.181C>T

3 papers

NM_000435.3

p.C65F

c.194G>T