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

12 papers

NM_000435.3

p.W71C

c.213G>T

Surrounding Variants

1 paper

NM_000435.3

p.W71_V72insFs

c.213_214insT

12 papers

NM_000435.3

p.W71C

c.213G>C

1 paper

NM_000435.3

p.V72M

c.214G>A

1 paper

NM_000435.3

p.V72ins2

c.215_216ins6

3 papers

NM_000435.3

p.G73S

c.217G>A

1 paper

NM_000435.3

p.G70D

c.209G>A

2 papers

NM_000435.3

p.G70C

c.208G>T

8 papers

NM_000435.3

p.G73A

c.218G>C

1 paper

NM_000435.3

p.G73D

c.218G>A

1 paper

NM_000435.3

p.E74K

c.220G>A

1 paper

NM_000435.3

p.P68insFs

c.203dupC

2 papers

NM_000435.3

p.R75W

c.223C>T