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.G1096R

c.3286G>C

Surrounding Variants

1 paper

NM_000435.3

p.G1096R

c.3286G>A

1 paper

NM_000435.3

p.G1097fs

c.3289_3290fs

8 papers

NM_000435.3

p.T1098S

c.3292A>T

1 paper

NM_000435.3

p.G1097delFs

c.3291delC

8 papers

NM_000435.3

p.T1098S

c.3293C>G

1 paper

NM_000435.3

p.T1098fs

c.3292_3293fs

3 papers

NM_000435.3

p.C1099F

c.3296G>T

9 papers

NM_000435.3

p.C1099Y

c.3296G>A

1 paper

NM_000435.3

p.P1092H

c.3275C>A

7 papers

NM_000435.3

p.R1100C

c.3298C>T

1 paper

NM_000435.3

p.R1100L

c.3299G>T

12 papers

NM_000435.3

p.R1100H

c.3299G>A