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.P2222L

c.6665C>T

Surrounding Variants

7 papers

NM_000435.3

p.Y2221*

c.6663C>G

4 papers

NM_000435.3

p.Y2221*

c.6663C>A

42 papers

NM_000435.3

p.A2223V

c.6668C>T

2 papers

NM_000435.3

p.E2220delFs

c.6659_6660delCT

1 paper

NM_000435.3

p.A2223A

c.6669G>T

1 paper

NM_000435.3

p.E2220fs

c.6658_6659fs

1 paper

NM_000435.3

p.G2218G

c.6654C>T

2 papers

NM_000435.3

p.G2225del1

c.6673_6674delCCC

1 paper

NM_000435.3

p.H2227R

c.6680A>G

1 paper

NM_000435.3

p.H2227Q

c.6681C>G

1 paper

NM_000435.3

p.H2227fs

c.6679_6680fs

1 paper

NM_000435.3

p.H2227Q

c.6681C>A