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.S550F

c.1649C>T

Surrounding Variants

1 paper

NM_000435.3

p.P551A

c.1651C>G

4 papers

NM_000435.3

p.C549S

c.1646G>C

7 papers

NM_000435.3

p.C549Y

c.1646G>A

7 papers

NM_000435.3

p.C549R

c.1645T>C

4 papers

NM_000435.3

p.C549S

c.1645T>A

1 paper

NM_000435.3

p.D552H

c.1654G>C

1 paper

NM_000435.3

p.D548N

c.1642G>A

1 paper

NM_000435.3

p.D547G

c.1640A>G

1 paper

NM_000435.3

p.V546A

c.1637T>C

5 papers

NM_000435.3

p.C554F

c.1661G>T

1 paper

NM_000435.3

p.C554Y

c.1661G>A

1 paper

NM_000435.3

p.V546M

c.1636G>A