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.E1074K

c.3220G>A

Surrounding Variants

1 paper

NM_000435.3

p.G1075S

c.3223G>A

1 paper

NM_000435.3

p.C1072Y

c.3215G>A

1 paper

NM_000435.3

p.C1072_P1073insCT

c.3214_3218ins6

43 papers

NM_000435.3

p.R1076C

c.3226C>T

1 paper

NM_000435.3

p.V1071L

c.3211G>T

1 paper

NM_000435.3

p.V1071L

c.3211G>C

2 papers

NM_000435.3

p.C1070S

c.3209G>C

3 papers

NM_000435.3

p.C1070S

c.3208T>A

12 papers

NM_000435.3

p.Y1069C

c.3206A>G

3 papers

NM_000435.3

p.S1067C

c.3200C>G

1 paper

NM_000435.3

p.H1080Q

c.3240C>G

1 paper

NM_000435.3

p.H1080Q

c.3240C>A