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

8 papers

NM_000435.3

p.G172D

c.515G>A

Surrounding Variants

11 papers

NM_000435.3

p.G171C

c.511G>T

19 papers

NM_000435.3

p.C174R

c.520T>C

4 papers

NM_000435.3

p.C174S

c.520T>A

12 papers

NM_000435.3

p.C174F

c.521G>T

4 papers

NM_000435.3

p.C174S

c.521G>C

27 papers

NM_000435.3

p.C174Y

c.521G>A

36 papers

NM_000435.3

p.H170R

c.509A>G

2 papers

NM_000435.3

p.C174W

c.522C>G

2 papers

NM_000435.3

p.C174delins

c.521_522delinsTG

1 paper

NM_000435.3

p.L175H

c.524T>A

4 papers

NM_000435.3

p.R169H

c.506G>A

174 papers

NM_000435.3

p.R169C

c.505C>T