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.E1052G

c.3155A>G

Surrounding Variants

1 paper

NM_000435.3

p.R1050L

c.3149G>T

3 papers

NM_000435.3

p.R1050W

c.3148C>T

1 paper

NM_000435.3

p.C1055S

c.3163T>A

1 paper

NM_000435.3

p.C1055S

c.3164G>C

4 papers

NM_000435.3

p.C1055Y

c.3164G>A

1 paper

NM_000435.3

p.G1048A

c.3143G>C

1 paper

NM_000435.3

p.G1048Splc

c.3143-2A>T

1 paper

NM_000435.3

p.G1048Splc

c.3143-3C>T

9 papers

NM_000435.3

p.G1058C

c.3172G>T

1 paper

NM_000435.3

p.G1059W

c.3175G>T

1 paper

NM_000435.3

p.C1061R

c.3181T>C

2 papers

NM_000435.3

p.C1061F

c.3182G>T