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.G1154R

c.3460G>A

Surrounding Variants

5 papers

NM_000435.3

p.T1152M

c.3455C>T

1 paper

NM_000435.3

p.G1151*

c.3451G>T

2 papers

NM_000435.3

p.P1150T

c.3448C>A

1 paper

NM_000435.3

p.C1148F

c.3443G>T

1 paper

NM_000435.3

p.L1145P

c.3434T>C

4 papers

NM_000435.3

p.Y1144C

c.3431A>G

1 paper

NM_000435.3

p.R1143P

c.3428G>C

1 paper

NM_000435.3

p.R1143H

c.3428G>A

17 papers

NM_000435.3

p.R1143C

c.3427C>T

2 papers

NM_000435.3

p.A1142T

c.3424G>A

1 paper

NM_000435.3

p.V1141_A1142insG

c.3421_3425ins3

2 papers

NM_000435.3

p.V1141M

c.3421G>A