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.R213W

c.637A>T

Surrounding Variants

1 paper

NM_000435.3

p.R213_Q214insT

c.637_641ins3

31 papers

NM_000435.3

p.R213K

c.638G>A

8 papers

NM_000435.3

p.C212W

c.636C>G

1 paper

NM_000435.3

p.C212F

c.635G>T

28 papers

NM_000435.3

p.C212S

c.635G>C

13 papers

NM_000435.3

p.C212Y

c.635G>A

5 papers

NM_000435.3

p.C212G

c.634T>G

4 papers

NM_000435.3

p.C212R

c.634T>C

30 papers

NM_000435.3

p.C212S

c.634T>A

2 papers

NM_000435.3

p.G210G

c.630C>T

2 papers

NM_000435.3

p.G216S

c.646G>A

1 paper

NM_000435.3

p.G209G

c.627G>C