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

5 papers

NM_000435.3

p.C522S

c.1564T>A

Surrounding Variants

1 paper

NM_000435.3

p.C522G

c.1564T>G

1 paper

NM_000435.3

p.C522R

c.1564T>C

6 papers

NM_000435.3

p.C522S

c.1565G>C

1 paper

NM_000435.3

p.C522W

c.1566C>G

1 paper

NM_000435.3

p.V523V

c.1569G>C

1 paper

NM_000435.3

p.D524fs

c.1570_1571fs

1 paper

NM_000435.3

p.G519R

c.1555G>C

1 paper

NM_000435.3

p.G519S

c.1555G>A

1 paper

NM_000435.3

p.P526S

c.1576C>T

3 papers

NM_000435.3

p.R517S

c.1551G>C

1 paper

NM_000435.3

p.P526P

c.1578C>G

1 paper

NM_000435.3

p.Q525_P526del2

c.1573_1577del6