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.G191R

c.571G>C

Surrounding Variants

1 paper

NM_000435.3

p.G191R

c.571G>A

1 paper

NM_000435.3

p.Y189F

c.566A>T

12 papers

NM_000435.3

p.Y189C

c.566A>G

1 paper

NM_000435.3

p.G188G

c.564C>G

1 paper

NM_000435.3

p.C194G

c.580T>G

7 papers

NM_000435.3

p.C194R

c.580T>C

11 papers

NM_000435.3

p.C194S

c.580T>A

8 papers

NM_000435.3

p.C194F

c.581G>T

11 papers

NM_000435.3

p.C194S

c.581G>C

6 papers

NM_000435.3

p.C194Y

c.581G>A

1 paper

NM_000435.3

p.P186_A187insFs

c.558_559insC

1 paper

NM_000435.3

p.P186L

c.557C>T