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.R2150H

c.6449G>A

Surrounding Variants

5 papers

NM_000435.3

p.R2150C

c.6448C>T

1 paper

NM_000435.3

p.R2150S

c.6448C>A

1 paper

NM_000435.3

p.G2149fs

c.6445_6446fs

2 papers

NM_000435.3

p.G2149E

c.6446G>A

2 papers

NM_000435.3

p.P2152L

c.6455C>T

1 paper

NM_000435.3

p.L2148I

c.6442C>A

1 paper

NM_000435.3

p.P2153S

c.6457C>T

1 paper

NM_000435.3

p.A2146fs

c.6436_6437fs

7 papers

NM_000435.3

p.A2146A

c.6438G>A

1 paper

NM_000435.3

p.G2154fs

c.6460_6461fs

1 paper

NM_000435.3

p.A2146E

c.6437C>A

1 paper

NM_000435.3

p.G2154fs

c.6460_6461fs