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.C417S

c.1249T>A

Surrounding Variants

1 paper

NM_000435.3

p.C417_Q418ins4

c.1249_1253ins12

1 paper

NM_000435.3

p.C417R

c.1249T>C

1 paper

NM_000435.3

p.C417S

c.1250G>C

3 papers

NM_000435.3

p.C419R

c.1255T>C

3 papers

NM_000435.3

p.C419S

c.1255T>A

3 papers

NM_000435.3

p.C419S

c.1256G>C

12 papers

NM_000435.3

p.S414C

c.1241C>G

2 papers

NM_000435.3

p.C419W

c.1257C>G

18 papers

NM_000435.3

p.G420C

c.1258G>T

2 papers

NM_000435.3

p.G420S

c.1258G>A

1 paper

NM_000435.3

p.G420V

c.1259G>T

16 papers

NM_000435.3

p.R421C

c.1261C>T