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

36 papers

NM_000435.3

p.S497L

c.1490C>T

Surrounding Variants

1 paper

NM_000435.3

p.S497*

c.1490C>A

1 paper

NM_000435.3

p.P496delFs

c.1488delG

1 paper

NM_000435.3

p.G498C

c.1492G>T

1 paper

NM_000435.3

p.P496fs

c.1486_1487fs

1 paper

NM_000435.3

p.G498Splc

c.1492+1G>A

24 papers

NM_000435.3

p.P496L

c.1487C>T

1 paper

NM_000435.3

p.P496insFs

c.1487_1488insT

1 paper

NM_000435.3

p.C495F

c.1484G>T

7 papers

NM_000435.3

p.C495Y

c.1484G>A

1 paper

NM_000435.3

p.C495G

c.1483T>G

1 paper

NM_000435.3

p.T494T

c.1482C>A

1 paper

NM_000435.3

p.T494I

c.1481C>T