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

2 papers

NM_000435.3

p.G70C

c.208G>T

Surrounding Variants

1 paper

NM_000435.3

p.G70D

c.209G>A

1 paper

NM_000435.3

p.P68insFs

c.203dupC

12 papers

NM_000435.3

p.W71C

c.213G>T

1 paper

NM_000435.3

p.W71_V72insFs

c.213_214insT

12 papers

NM_000435.3

p.W71C

c.213G>C

2 papers

NM_000435.3

p.P68L

c.203C>T

1 paper

NM_000435.3

p.V72M

c.214G>A

1 paper

NM_000435.3

p.P68S

c.202C>T

2 papers

NM_000435.3

p.P68ins1

c.202_203insACC

1 paper

NM_000435.3

p.V72ins2

c.215_216ins6

8 papers

NM_000435.3

p.C67S

c.200G>C

7 papers

NM_000435.3

p.C67Y

c.200G>A