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

3 papers

NM_000435.3

p.R1036*

c.3106C>T

Surrounding Variants

1 paper

NM_000435.3

p.S1037N

c.3110G>A

1 paper

NM_000435.3

p.L1038S

c.3113T>C

1 paper

NM_000435.3

p.P1039L

c.3116C>T

1 paper

NM_000435.3

p.L1032L

c.3096C>T

1 paper

NM_000435.3

p.C1040S

c.3118T>A

5 papers

NM_000435.3

p.L1032F

c.3094C>T

1 paper

NM_000435.3

p.C1040S

c.3119G>C

1 paper

NM_000435.3

p.C1040Y

c.3119G>A

1 paper

NM_000435.3

p.R1031H

c.3092G>A

51 papers

NM_000435.3

p.R1031C

c.3091C>T

1 paper

NM_000435.3

p.R1041K

c.3122G>A

2 papers

NM_000435.3

p.G1030R

c.3088G>C