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.P609L

c.1826C>T

Surrounding Variants

1 paper

NM_000435.3

p.P609insFs

c.1826_1827insT

1 paper

NM_000435.3

p.P609S

c.1825C>T

2 papers

NM_000435.3

p.C608W

c.1824C>G

2 papers

NM_000435.3

p.C608Y

c.1823G>A

8 papers

NM_000435.3

p.R607H

c.1820G>A

81 papers

NM_000435.3

p.R607C

c.1819C>T

3 papers

NM_000435.3

p.C606F

c.1817G>T

3 papers

NM_000435.3

p.C606S

c.1817G>C

2 papers

NM_000435.3

p.C606Y

c.1817G>A

8 papers

NM_000435.3

p.C606R

c.1816T>C

3 papers

NM_000435.3

p.C606S

c.1816T>A

2 papers

NM_000435.3

p.L605V

c.1813C>G