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

4 papers

NM_000435.3

p.D139N

c.415G>A

Surrounding Variants

1 paper

NM_000435.3

p.P138insFs

c.412dupC

4 papers

NM_000435.3

p.D139V

c.416A>T

1 paper

NM_000435.3

p.D139_G140insFs

c.417_418ins4

1 paper

NM_000435.3

p.P138L

c.413C>T

146 papers

NM_000435.3

p.R141C

c.421C>T

1 paper

NM_000435.3

p.V136L

c.406G>T

2 papers

NM_000435.3

p.V136L

c.406G>C

7 papers

NM_000435.3

p.F142C

c.425T>G

1 paper

NM_000435.3

p.L143_C144insG

c.427_431ins3

1 paper

NM_000435.3

p.L143P

c.428T>C

1 paper

NM_000435.3

p.L143delFs

c.427delG

11 papers

NM_000435.3

p.C134W

c.402C>G