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.C473S

c.1417T>A

Surrounding Variants

1 paper

NM_000435.3

p.C473S

c.1418G>C

1 paper

NM_000435.3

p.C473fs

c.1417_1418fs

1 paper

NM_000435.3

p.D471insFs

c.1413dupC

1 paper

NM_000435.3

p.E472K

c.1414G>A

1 paper

NM_000435.3

p.Q474*

c.1420C>T

1 paper

NM_000435.3

p.Q474Q

c.1422G>A

1 paper

NM_000435.3

p.D471G

c.1412A>G

1 paper

NM_000435.3

p.D471N

c.1411G>A

1 paper

NM_000435.3

p.I470M

c.1410T>G

2 papers

NM_000435.3

p.I470T

c.1409T>C

5 papers

NM_000435.3

p.S476C

c.1426A>T

1 paper

NM_000435.3

p.V468_D469del0

c.1402_1407del6