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.N314D

c.940A>G

Surrounding Variants

1 paper

NM_000435.3

p.Q313*

c.937C>T

1 paper

NM_000435.3

p.I315fs

c.943_944fs

4 papers

NM_000435.3

p.I315I

c.945C>T

1 paper

NM_000435.3

p.D316N

c.946G>A

1 paper

NM_000435.3

p.I315delFs

c.945delG

1 paper

NM_000435.3

p.D316E

c.948T>G

1 paper

NM_000435.3

p.D316E

c.948T>A

3 papers

NM_000435.3

p.C311S

c.932G>C

4 papers

NM_000435.3

p.C311G

c.931T>G

3 papers

NM_000435.3

p.C311S

c.931T>A

1 paper

NM_000435.3

p.S310S

c.930C>T

1 paper

NM_000435.3

p.S310T

c.929G>C