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

1–12 of 2778 variants

207 papers

NM_000435.3

p.R133C

c.397C>T

198 papers

NM_000435.3

p.R544C

c.1630C>T

176 papers

NM_000435.3

p.R90C

c.268C>T

174 papers

NM_000435.3

p.R169C

c.505C>T

146 papers

NM_000435.3

p.R141C

c.421C>T

117 papers

NM_000435.3

p.R182C

c.544C>T

107 papers

NM_000435.3

p.R75P

c.224G>C

105 papers

NM_000435.3

p.R153C

c.457C>T

97 papers

NM_000435.3

p.R110C

c.328C>T

92 papers

NM_000435.3

p.R1231C

c.3691C>T

81 papers

NM_000435.3

p.R607C

c.1819C>T

78 papers

NM_000435.3

p.R332C

c.994C>T