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.G268_C271delFs

c.803_812del10

Surrounding Variants

7 papers

NM_000435.3

p.C271F

c.812G>T

2 papers

NM_000435.3

p.C271Y

c.812G>A

1 paper

NM_000435.3

p.F270insFs

c.810dupC

2 papers

NM_000435.3

p.C271R

c.811T>C

2 papers

NM_000435.3

p.T272M

c.815C>T

1 paper

NM_000435.3

p.C271_T272delFs

c.811_814del4

1 paper

NM_000435.3

p.Q269_F270delFs

c.805_808del4

1 paper

NM_000435.3

p.E273K

c.817G>A

1 paper

NM_000435.3

p.E273V

c.818A>T

1 paper

NM_000435.3

p.Q269insFs

c.806dupA

3 papers

NM_000435.3

p.D274N

c.820G>A

3 papers

NM_000435.3

p.E277fs

c.829_830fs