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.Y1021*

c.3063T>A

Surrounding Variants

1 paper

NM_000435.3

p.Y1021*

c.3063T>G

3 papers

NM_000435.3

p.C1022G

c.3064T>G

24 papers

NM_000435.3

p.Y1021C

c.3062A>G

1 paper

NM_000435.3

p.A1020insFs

c.3060dupC

4 papers

NM_000435.3

p.C1022F

c.3065G>T

1 paper

NM_000435.3

p.A1020_Y1021insFs

c.3060_3061insG

1 paper

NM_000435.3

p.L1023F

c.3067C>T

33 papers

NM_000435.3

p.A1020P

c.3058G>C

1 paper

NM_000435.3

p.P1025T

c.3073C>A

1 paper

NM_000435.3

p.C1024delFs

c.3072delA

1 paper

NM_000435.3

p.P1026S

c.3076C>T

2 papers

NM_000435.3

p.P1026T

c.3076C>A