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.C43fs

c.127_128fs

Surrounding Variants

7 papers

NM_000435.3

p.C43G

c.127T>G

1 paper

NM_000435.3

p.C43R

c.127T>C

3 papers

NM_000435.3

p.C43S

c.127T>A

2 papers

NM_000435.3

p.P42insFs

c.125dupC

3 papers

NM_000435.3

p.P42fs

c.124_125fs

1 paper

NM_000435.3

p.P42delFs

c.124delG

8 papers

NM_000435.3

p.C43F

c.128G>T

4 papers

NM_000435.3

p.C43S

c.128G>C

3 papers

NM_000435.3

p.C43Y

c.128G>A

1 paper

NM_000435.3

p.P42delFs

c.126delA

1 paper

NM_000435.3

p.P42S

c.124C>T

1 paper

NM_000435.3

p.P42T

c.124C>A