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.N2164Y

c.6490A>T

Surrounding Variants

4 papers

NM_000435.3

p.G2154_L2162delFs

c.6461_6486del26

1 paper

NM_000435.3

p.C2156_G2161delFs

c.6468_6481del14

2 papers

NM_000435.3

p.A2167fs

c.6499_6500fs

1 paper

NM_000435.3

p.L2160L

c.6480G>A

1 paper

NM_000435.3

p.A2167A

c.6501T>C

1 paper

NM_000435.3

p.V2168M

c.6502G>A

1 paper

NM_000435.3

p.L2160M

c.6478C>A

1 paper

NM_000435.3

p.L2158L

c.6474C>T

1 paper

NM_000435.3

p.L2170F

c.6508C>T

2 papers

NM_000435.3

p.D2171H

c.6511G>C

1 paper

NM_000435.3

p.D2171N

c.6511G>A

1 paper

NM_000435.3

p.C2156fs

c.6466_6467fs