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.V98_G100Fs

c.292_300delinsACFs

Surrounding Variants

2 papers

NM_000435.3

p.G100D

c.299G>A

4 papers

NM_000435.3

p.S96_V98del3

c.286_293del9

13 papers

NM_000435.3

p.T101T

c.303C>T

2 papers

NM_000435.3

p.A102T

c.304G>A

1 paper

NM_000435.3

p.V98A

c.293T>C

1 paper

NM_000435.3

p.A102V

c.305C>T

1 paper

NM_000435.3

p.A102A

c.306C>G

1 paper

NM_000435.3

p.A102fs

c.304_305fs

2 papers

NM_000435.3

p.V97V

c.291G>T

18 papers

NM_000435.3

p.R103*

c.307C>T

2 papers

NM_000435.3

p.V97A

c.290T>C

1 paper

NM_000435.3

p.R103L

c.308G>T