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.M1103T

c.3308T>C

Surrounding Variants

1 paper

NM_000435.3

p.Y1102C

c.3305A>G

1 paper

NM_000435.3

p.G1105C

c.3313G>T

1 paper

NM_000435.3

p.G1105S

c.3313G>A

1 paper

NM_000435.3

p.G1101G

c.3303C>T

2 papers

NM_000435.3

p.G1105A

c.3314G>C

1 paper

NM_000435.3

p.G1101D

c.3302G>A

1 paper

NM_000435.3

p.G1105G

c.3315C>T

1 paper

NM_000435.3

p.G1105fs

c.3313_3314fs

1 paper

NM_000435.3

p.G1105delFs

c.3314delC

1 paper

NM_000435.3

p.G1105_Y1106insFs

c.3315_3316insC

1 paper

NM_000435.3

p.Y1106H

c.3316T>C

1 paper

NM_000435.3

p.R1100L

c.3299G>T