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

11 papers

NM_000435.3

p.C185G

c.553T>G

Surrounding Variants

29 papers

NM_000435.3

p.C185R

c.553T>C

3 papers

NM_000435.3

p.C185S

c.553T>A

3 papers

NM_000435.3

p.C185S

c.554G>C

9 papers

NM_000435.3

p.C185Y

c.554G>A

1 paper

NM_000435.3

p.Q184L

c.551A>T

1 paper

NM_000435.3

p.P186L

c.557C>T

1 paper

NM_000435.3

p.Q184_C185del2

c.550_554del6

6 papers

NM_000435.3

p.C183F

c.548G>T

20 papers

NM_000435.3

p.C183S

c.548G>C

3 papers

NM_000435.3

p.C183Y

c.548G>A

1 paper

NM_000435.3

p.G179_R182del0

c.537_545del9

1 paper

NM_000435.3

p.P186_A187insFs

c.558_559insC