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.P81R

c.242C>G

Surrounding Variants

1 paper

NM_000435.3

p.P81A

c.241C>G

3 papers

NM_000435.3

p.C82R

c.244T>C

2 papers

NM_000435.3

p.C82F

c.245G>T

2 papers

NM_000435.3

p.D80V

c.239A>T

25 papers

NM_000435.3

p.D80G

c.239A>G

1 paper

NM_000435.3

p.D80Y

c.238G>T

2 papers

NM_000435.3

p.L78del1

c.232_233delCAG

2 papers

NM_000435.3

p.C76_L78del0

c.226_234del9

1 paper

NM_000435.3

p.H83H

c.249C>T

2 papers

NM_000435.3

p.Q77_H83del0

c.231_248del18

2 papers

NM_000435.3

p.S84*

c.251C>G

5 papers

NM_000435.3

p.S84S

c.252A>T