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

39 papers

NM_000435.3

p.R54C

c.160C>T

Surrounding Variants

1 paper

NM_000435.3

p.R54insFs

c.161_162insAG

1 paper

NM_000435.3

p.R54H

c.161G>A

3 papers

NM_000435.3

p.C55G

c.163T>G

4 papers

NM_000435.3

p.C55R

c.163T>C

1 paper

NM_000435.3

p.C55S

c.163T>A

5 papers

NM_000435.3

p.G53C

c.157G>T

1 paper

NM_000435.3

p.G53S

c.157G>A

1 paper

NM_000435.3

p.C55S

c.164G>C

2 papers

NM_000435.3

p.C55Y

c.164G>A

3 papers

NM_000435.3

p.G52R

c.154G>C

3 papers

NM_000435.3

p.G52R

c.154G>A

1 paper

NM_000435.3

p.G53_T56delFs

c.157_166del10